ATFB7
MCID: ATR037
MIFTS: 23

Atrial Fibrillation, Familial, 7 (ATFB7)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Mental diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Atrial Fibrillation, Familial, 7

MalaCards integrated aliases for Atrial Fibrillation, Familial, 7:

Name: Atrial Fibrillation, Familial, 7 57 72 29 13 6 70
Atfb7 57 72
Fibrillation, Atrial, Familial, Type 7 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
risk of thromboembolic stroke


HPO:

31
atrial fibrillation, familial, 7:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 612240
OMIM Phenotypic Series 57 PS608583
MeSH 44 D001281
MedGen 41 C2677106
UMLS 70 C2677106

Summaries for Atrial Fibrillation, Familial, 7

OMIM® : 57 Atrial fibrillation (AF) is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke (Brugada et al., 1997). For a discussion of genetic heterogeneity of atrial fibrillation, see 608583. (612240) (Updated 05-Apr-2021)

MalaCards based summary : Atrial Fibrillation, Familial, 7, is also known as atfb7. An important gene associated with Atrial Fibrillation, Familial, 7 is KCNA5 (Potassium Voltage-Gated Channel Subfamily A Member 5). Related phenotypes are prolonged qtc interval and prolonged pr interval

UniProtKB/Swiss-Prot : 72 Atrial fibrillation, familial, 7: A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure.

Symptoms & Phenotypes for Atrial Fibrillation, Familial, 7

Human phenotypes related to Atrial Fibrillation, Familial, 7:

31
# Description HPO Frequency HPO Source Accession
1 prolonged qtc interval 31 occasional (7.5%) HP:0005184
2 prolonged pr interval 31 occasional (7.5%) HP:0012248
3 paroxysmal atrial fibrillation 31 HP:0004757
4 palpitations 31 HP:0001962

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Cardiovascular Heart:
palpitations
atrial fibrillation, paroxysmal or persistent
prolonged pr interval (in some patients)
incomplete right bundle branch block (in some patients)
prolonged qtc interval (in some patients)

Clinical features from OMIM®:

612240 (Updated 05-Apr-2021)

Drugs & Therapeutics for Atrial Fibrillation, Familial, 7

Search Clinical Trials , NIH Clinical Center for Atrial Fibrillation, Familial, 7

Genetic Tests for Atrial Fibrillation, Familial, 7

Genetic tests related to Atrial Fibrillation, Familial, 7:

# Genetic test Affiliating Genes
1 Atrial Fibrillation, Familial, 7 29 KCNA5

Anatomical Context for Atrial Fibrillation, Familial, 7

Publications for Atrial Fibrillation, Familial, 7

Articles related to Atrial Fibrillation, Familial, 7:

# Title Authors PMID Year
1
Genetic variation in KCNA5: impact on the atrial-specific potassium current IKur in patients with lone atrial fibrillation. 6 57
23264583 2013
2
Novel KCNA5 loss-of-function mutations responsible for atrial fibrillation. 6 57
19343045 2009
3
Kv1.5 channelopathy due to KCNA5 loss-of-function mutation causes human atrial fibrillation. 57 6
16772329 2006
4
Identification of a genetic locus for familial atrial fibrillation. 57
9070470 1997

Variations for Atrial Fibrillation, Familial, 7

ClinVar genetic disease variations for Atrial Fibrillation, Familial, 7:

6 (show top 50) (show all 182)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KCNA5 NM_002234.4(KCNA5):c.1123G>T (p.Glu375Ter) SNV Pathogenic 13469 rs121908590 GRCh37: 12:5154436-5154436
GRCh38: 12:5045270-5045270
2 KCNA5 NM_002234.4(KCNA5):c.1727C>T (p.Ala576Val) SNV Pathogenic 13471 rs121908592 GRCh37: 12:5155040-5155040
GRCh38: 12:5045874-5045874
3 KCNA5 NM_002234.4(KCNA5):c.1828G>A (p.Glu610Lys) SNV Pathogenic 13472 rs121908593 GRCh37: 12:5155141-5155141
GRCh38: 12:5045975-5045975
4 KCNA5 NM_002234.4(KCNA5):c.143A>G (p.Glu48Gly) SNV Pathogenic 127137 rs587777336 GRCh37: 12:5153456-5153456
GRCh38: 12:5044290-5044290
5 KCNA5 NM_002234.4(KCNA5):c.1672G>A (p.Gly558Arg) SNV Conflicting interpretations of pathogenicity 469587 rs201328038 GRCh37: 12:5154985-5154985
GRCh38: 12:5045819-5045819
6 KCNA5 NM_002234.4(KCNA5):c.79G>A (p.Gly27Ser) SNV Conflicting interpretations of pathogenicity 469598 rs201238766 GRCh37: 12:5153392-5153392
GRCh38: 12:5044226-5044226
7 KCNA5 NM_002234.4(KCNA5):c.615G>C (p.Leu205=) SNV Conflicting interpretations of pathogenicity 469596 rs12720443 GRCh37: 12:5153928-5153928
GRCh38: 12:5044762-5044762
8 KCNA5 NM_002234.4(KCNA5):c.1539C>T (p.Pro513=) SNV Conflicting interpretations of pathogenicity 469585 rs145832242 GRCh37: 12:5154852-5154852
GRCh38: 12:5045686-5045686
9 KCNA5 NM_002234.4(KCNA5):c.1595C>T (p.Pro532Leu) SNV Conflicting interpretations of pathogenicity 469586 rs17221812 GRCh37: 12:5154908-5154908
GRCh38: 12:5045742-5045742
10 KCNA5 NM_002234.4(KCNA5):c.634C>T (p.Arg212Cys) SNV Conflicting interpretations of pathogenicity 191460 rs77281462 GRCh37: 12:5153947-5153947
GRCh38: 12:5044781-5044781
11 KCNA5 NM_002234.4(KCNA5):c.898G>A (p.Gly300Ser) SNV Conflicting interpretations of pathogenicity 191462 rs148708451 GRCh37: 12:5154211-5154211
GRCh38: 12:5045045-5045045
12 KCNA5 NM_002234.4(KCNA5):c.213_245del (p.Asp72_Pro82del) Deletion Conflicting interpretations of pathogenicity 537316 rs144879674 GRCh37: 12:5153498-5153530
GRCh38: 12:5044332-5044364
13 KCNA5 NM_002234.4(KCNA5):c.633G>C (p.Glu211Asp) SNV Conflicting interpretations of pathogenicity 191459 rs35853292 GRCh37: 12:5153946-5153946
GRCh38: 12:5044780-5044780
14 KCNA5 NM_002234.4(KCNA5):c.797C>T (p.Thr266Ile) SNV Conflicting interpretations of pathogenicity 579528 rs369750762 GRCh37: 12:5154110-5154110
GRCh38: 12:5044944-5044944
15 KCNA5 NM_002234.4(KCNA5):c.1733G>A (p.Arg578Lys) SNV Conflicting interpretations of pathogenicity 191573 rs12720445 GRCh37: 12:5155046-5155046
GRCh38: 12:5045880-5045880
16 KCNA5 NM_002234.4(KCNA5):c.570C>T (p.Asn190=) SNV Conflicting interpretations of pathogenicity 469595 rs12720444 GRCh37: 12:5153883-5153883
GRCh38: 12:5044717-5044717
17 KCNA5 NM_002234.4(KCNA5):c.251A>C (p.Glu84Ala) SNV Conflicting interpretations of pathogenicity 191456 rs377036305 GRCh37: 12:5153564-5153564
GRCh38: 12:5044398-5044398
18 KCNA5 NM_002234.4(KCNA5):c.497A>C (p.Asp166Ala) SNV Uncertain significance 537306 rs748629738 GRCh37: 12:5153810-5153810
GRCh38: 12:5044644-5044644
19 KCNA5 NM_002234.4(KCNA5):c.*558G>T SNV Uncertain significance 883738 GRCh37: 12:5155713-5155713
GRCh38: 12:5046547-5046547
20 KCNA5 NM_002234.4(KCNA5):c.1354G>A (p.Val452Ile) SNV Uncertain significance 523450 rs1486417435 GRCh37: 12:5154667-5154667
GRCh38: 12:5045501-5045501
21 KCNA5 NM_002234.4(KCNA5):c.449C>T (p.Ala150Val) SNV Uncertain significance 930576 GRCh37: 12:5153762-5153762
GRCh38: 12:5044596-5044596
22 KCNA5 NM_002234.4(KCNA5):c.937_940dup (p.Pro314fs) Duplication Uncertain significance 931266 GRCh37: 12:5154249-5154250
GRCh38: 12:5045083-5045084
23 KCNA5 NM_002234.4(KCNA5):c.827G>A (p.Arg276Lys) SNV Uncertain significance 943244 GRCh37: 12:5154140-5154140
GRCh38: 12:5044974-5044974
24 KCNA5 NM_002234.4(KCNA5):c.1573C>T (p.Arg525Trp) SNV Uncertain significance 944575 GRCh37: 12:5154886-5154886
GRCh38: 12:5045720-5045720
25 KCNA5 NM_002234.4(KCNA5):c.1141C>A (p.Pro381Thr) SNV Uncertain significance 946819 GRCh37: 12:5154454-5154454
GRCh38: 12:5045288-5045288
26 KCNA5 NM_002234.4(KCNA5):c.824T>C (p.Phe275Ser) SNV Uncertain significance 953579 GRCh37: 12:5154137-5154137
GRCh38: 12:5044971-5044971
27 KCNA5 NM_002234.4(KCNA5):c.14T>C (p.Leu5Pro) SNV Uncertain significance 960087 GRCh37: 12:5153327-5153327
GRCh38: 12:5044161-5044161
28 KCNA5 NM_002234.4(KCNA5):c.1661G>A (p.Arg554Gln) SNV Uncertain significance 966389 GRCh37: 12:5154974-5154974
GRCh38: 12:5045808-5045808
29 KCNA5 NM_002234.4(KCNA5):c.560G>A (p.Arg187Lys) SNV Uncertain significance 968432 GRCh37: 12:5153873-5153873
GRCh38: 12:5044707-5044707
30 KCNA5 NM_002234.4(KCNA5):c.770T>C (p.Val257Ala) SNV Uncertain significance 998896 GRCh37: 12:5154083-5154083
GRCh38: 12:5044917-5044917
31 KCNA5 NM_002234.4(KCNA5):c.68G>A (p.Arg23Gln) SNV Uncertain significance 1001400 GRCh37: 12:5153381-5153381
GRCh38: 12:5044215-5044215
32 KCNA5 NM_002234.4(KCNA5):c.471C>G (p.Asp157Glu) SNV Uncertain significance 1004369 GRCh37: 12:5153784-5153784
GRCh38: 12:5044618-5044618
33 KCNA5 NM_002234.4(KCNA5):c.917C>A (p.Pro306Gln) SNV Uncertain significance 1005634 GRCh37: 12:5154230-5154230
GRCh38: 12:5045064-5045064
34 KCNA5 NM_002234.4(KCNA5):c.61G>A (p.Glu21Lys) SNV Uncertain significance 1006528 GRCh37: 12:5153374-5153374
GRCh38: 12:5044208-5044208
35 KCNA5 NM_002234.4(KCNA5):c.631G>C (p.Glu211Gln) SNV Uncertain significance 1010338 GRCh37: 12:5153944-5153944
GRCh38: 12:5044778-5044778
36 KCNA5 NM_002234.4(KCNA5):c.617G>C (p.Gly206Ala) SNV Uncertain significance 1011111 GRCh37: 12:5153930-5153930
GRCh38: 12:5044764-5044764
37 KCNA5 NM_002234.4(KCNA5):c.1199G>A (p.Arg400Gln) SNV Uncertain significance 1012073 GRCh37: 12:5154512-5154512
GRCh38: 12:5045346-5045346
38 KCNA5 NM_002234.4(KCNA5):c.1039C>T (p.Pro347Ser) SNV Uncertain significance 469581 rs752143941 GRCh37: 12:5154352-5154352
GRCh38: 12:5045186-5045186
39 KCNA5 NM_002234.4(KCNA5):c.853C>G (p.Pro285Ala) SNV Uncertain significance 834438 GRCh37: 12:5154166-5154166
GRCh38: 12:5045000-5045000
40 KCNA5 NM_002234.4(KCNA5):c.325_348dup (p.Asp109_Ser116dup) Duplication Uncertain significance 858903 GRCh37: 12:5153637-5153638
GRCh38: 12:5044471-5044472
41 KCNA5 NM_002234.4(KCNA5):c.1060C>T (p.Arg354Trp) SNV Uncertain significance 861735 GRCh37: 12:5154373-5154373
GRCh38: 12:5045207-5045207
42 KCNA5 NM_002234.4(KCNA5):c.1153G>C (p.Gly385Arg) SNV Uncertain significance 864049 GRCh37: 12:5154466-5154466
GRCh38: 12:5045300-5045300
43 KCNA5 NM_002234.4(KCNA5):c.156G>T (p.Lys52Asn) SNV Uncertain significance 957629 GRCh37: 12:5153469-5153469
GRCh38: 12:5044303-5044303
44 KCNA5 NM_002234.4(KCNA5):c.442G>A (p.Asp148Asn) SNV Uncertain significance 958518 GRCh37: 12:5153755-5153755
GRCh38: 12:5044589-5044589
45 KCNA5 NM_002234.4(KCNA5):c.140A>G (p.Lys47Arg) SNV Uncertain significance 309333 rs886049573 GRCh37: 12:5153453-5153453
GRCh38: 12:5044287-5044287
46 KCNA5 NM_002234.4(KCNA5):c.701G>T (p.Arg234Leu) SNV Uncertain significance 191461 rs371521698 GRCh37: 12:5154014-5154014
GRCh38: 12:5044848-5044848
47 KCNA5 NM_002234.4(KCNA5):c.1670G>A (p.Ser557Asn) SNV Uncertain significance 1014743 GRCh37: 12:5154983-5154983
GRCh38: 12:5045817-5045817
48 KCNA5 NM_002234.4(KCNA5):c.962C>T (p.Ala321Val) SNV Uncertain significance 1015513 GRCh37: 12:5154275-5154275
GRCh38: 12:5045109-5045109
49 KCNA5 NM_002234.4(KCNA5):c.1756T>G (p.Cys586Gly) SNV Uncertain significance 1017278 GRCh37: 12:5155069-5155069
GRCh38: 12:5045903-5045903
50 KCNA5 NM_002234.4(KCNA5):c.1225C>T (p.Arg409Cys) SNV Uncertain significance 1018732 GRCh37: 12:5154538-5154538
GRCh38: 12:5045372-5045372

Expression for Atrial Fibrillation, Familial, 7

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Pathways for Atrial Fibrillation, Familial, 7

GO Terms for Atrial Fibrillation, Familial, 7

Sources for Atrial Fibrillation, Familial, 7

3 CDC
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