ATFB7
MCID: ATR037
MIFTS: 19

Atrial Fibrillation, Familial, 7 (ATFB7)

Categories: Blood diseases, Cardiovascular diseases, Genetic 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 58 76 30 13 6 74
Atfb7 58 76
Fibrillation, Atrial, Familial, Type 7 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
risk of thromboembolic stroke


HPO:

33
atrial fibrillation, familial, 7:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 612240
MeSH 45 D001281
MedGen 43 C2677106
UMLS 74 C2677106

Summaries for Atrial Fibrillation, Familial, 7

OMIM : 58 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)

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). Affiliated tissues include heart, and related phenotypes are prolonged pr interval and prolonged qtc interval

UniProtKB/Swiss-Prot : 76 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:

33
# Description HPO Frequency HPO Source Accession
1 prolonged pr interval 33 occasional (7.5%) HP:0012248
2 prolonged qtc interval 33 occasional (7.5%) HP:0005184
3 palpitations 33 HP:0001962
4 paroxysmal atrial fibrillation 33 HP:0004757

Symptoms via clinical synopsis from OMIM:

58
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

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 30 KCNA5

Anatomical Context for Atrial Fibrillation, Familial, 7

MalaCards organs/tissues related to Atrial Fibrillation, Familial, 7:

42
Heart

Publications for Atrial Fibrillation, Familial, 7

Articles related to Atrial Fibrillation, Familial, 7:

# Title Authors Year
1
Genetic variation in KCNA5: impact on the atrial-specific potassium current IKur in patients with lone atrial fibrillation. ( 23264583 )
2013
2
Novel KCNA5 loss-of-function mutations responsible for atrial fibrillation. ( 19343045 )
2009
3
Kv1.5 channelopathy due to KCNA5 loss-of-function mutation causes human atrial fibrillation. ( 16772329 )
2006

Variations for Atrial Fibrillation, Familial, 7

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

6 (show top 50) (show all 136)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNA5 NM_002234.3(KCNA5): c.1123G> T (p.Glu375Ter) single nucleotide variant Pathogenic rs121908590 GRCh37 Chromosome 12, 5154436: 5154436
2 KCNA5 NM_002234.3(KCNA5): c.1123G> T (p.Glu375Ter) single nucleotide variant Pathogenic rs121908590 GRCh38 Chromosome 12, 5045270: 5045270
3 KCNA5 NM_002234.3(KCNA5): c.1580C> T (p.Thr527Met) single nucleotide variant Uncertain significance rs121908591 GRCh37 Chromosome 12, 5154893: 5154893
4 KCNA5 NM_002234.3(KCNA5): c.1580C> T (p.Thr527Met) single nucleotide variant Uncertain significance rs121908591 GRCh38 Chromosome 12, 5045727: 5045727
5 KCNA5 NM_002234.3(KCNA5): c.1727C> T (p.Ala576Val) single nucleotide variant Pathogenic rs121908592 GRCh37 Chromosome 12, 5155040: 5155040
6 KCNA5 NM_002234.3(KCNA5): c.1727C> T (p.Ala576Val) single nucleotide variant Pathogenic rs121908592 GRCh38 Chromosome 12, 5045874: 5045874
7 KCNA5 NM_002234.3(KCNA5): c.1828G> A (p.Glu610Lys) single nucleotide variant Pathogenic rs121908593 GRCh37 Chromosome 12, 5155141: 5155141
8 KCNA5 NM_002234.3(KCNA5): c.1828G> A (p.Glu610Lys) single nucleotide variant Pathogenic rs121908593 GRCh38 Chromosome 12, 5045975: 5045975
9 KCNA5 NM_002234.3(KCNA5): c.913G> A (p.Ala305Thr) single nucleotide variant Uncertain significance rs199794307 GRCh37 Chromosome 12, 5154226: 5154226
10 KCNA5 NM_002234.3(KCNA5): c.913G> A (p.Ala305Thr) single nucleotide variant Uncertain significance rs199794307 GRCh38 Chromosome 12, 5045060: 5045060
11 KCNA5 NM_002234.3(KCNA5): c.143A> G (p.Glu48Gly) single nucleotide variant Pathogenic rs587777336 GRCh37 Chromosome 12, 5153456: 5153456
12 KCNA5 NM_002234.3(KCNA5): c.143A> G (p.Glu48Gly) single nucleotide variant Pathogenic rs587777336 GRCh38 Chromosome 12, 5044290: 5044290
13 KCNA5 NM_002234.3(KCNA5): c.251A> C (p.Glu84Ala) single nucleotide variant Uncertain significance rs377036305 GRCh38 Chromosome 12, 5044398: 5044398
14 KCNA5 NM_002234.3(KCNA5): c.251A> C (p.Glu84Ala) single nucleotide variant Uncertain significance rs377036305 GRCh37 Chromosome 12, 5153564: 5153564
15 KCNA5 NM_002234.3(KCNA5): c.464A> G (p.Tyr155Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs202117321 GRCh38 Chromosome 12, 5044611: 5044611
16 KCNA5 NM_002234.3(KCNA5): c.464A> G (p.Tyr155Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs202117321 GRCh37 Chromosome 12, 5153777: 5153777
17 KCNA5 NM_002234.3(KCNA5): c.633G> C (p.Glu211Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs35853292 GRCh37 Chromosome 12, 5153946: 5153946
18 KCNA5 NM_002234.3(KCNA5): c.633G> C (p.Glu211Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs35853292 GRCh38 Chromosome 12, 5044780: 5044780
19 KCNA5 NM_002234.3(KCNA5): c.634C> T (p.Arg212Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs77281462 GRCh38 Chromosome 12, 5044781: 5044781
20 KCNA5 NM_002234.3(KCNA5): c.634C> T (p.Arg212Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs77281462 GRCh37 Chromosome 12, 5153947: 5153947
21 KCNA5 NM_002234.3(KCNA5): c.751G> A (p.Ala251Thr) single nucleotide variant Benign/Likely benign rs12720442 GRCh38 Chromosome 12, 5044898: 5044898
22 KCNA5 NM_002234.3(KCNA5): c.751G> A (p.Ala251Thr) single nucleotide variant Benign/Likely benign rs12720442 GRCh37 Chromosome 12, 5154064: 5154064
23 KCNA5 NM_002234.3(KCNA5): c.898G> A (p.Gly300Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs148708451 GRCh37 Chromosome 12, 5154211: 5154211
24 KCNA5 NM_002234.3(KCNA5): c.898G> A (p.Gly300Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs148708451 GRCh38 Chromosome 12, 5045045: 5045045
25 KCNA5 NM_002234.3(KCNA5): c.919C> T (p.Pro307Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs17215409 GRCh38 Chromosome 12, 5045066: 5045066
26 KCNA5 NM_002234.3(KCNA5): c.919C> T (p.Pro307Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs17215409 GRCh37 Chromosome 12, 5154232: 5154232
27 KCNA5 NM_002234.3(KCNA5): c.929C> T (p.Pro310Leu) single nucleotide variant Benign rs17215402 GRCh38 Chromosome 12, 5045076: 5045076
28 KCNA5 NM_002234.3(KCNA5): c.929C> T (p.Pro310Leu) single nucleotide variant Benign rs17215402 GRCh37 Chromosome 12, 5154242: 5154242
29 KCNA5 NM_002234.3(KCNA5): c.1733G> A (p.Arg578Lys) single nucleotide variant Benign rs12720445 GRCh37 Chromosome 12, 5155046: 5155046
30 KCNA5 NM_002234.3(KCNA5): c.1733G> A (p.Arg578Lys) single nucleotide variant Benign rs12720445 GRCh38 Chromosome 12, 5045880: 5045880
31 KCNA5 NM_002234.3(KCNA5): c.1149T> C (p.Gly383=) single nucleotide variant Benign/Likely benign rs2359641 GRCh38 Chromosome 12, 5045296: 5045296
32 KCNA5 NM_002234.3(KCNA5): c.1149T> C (p.Gly383=) single nucleotide variant Benign/Likely benign rs2359641 GRCh37 Chromosome 12, 5154462: 5154462
33 KCNA5 NM_002234.3(KCNA5): c.92G> T (p.Gly31Val) single nucleotide variant Benign/Likely benign rs61737395 GRCh37 Chromosome 12, 5153405: 5153405
34 KCNA5 NM_002234.3(KCNA5): c.92G> T (p.Gly31Val) single nucleotide variant Benign/Likely benign rs61737395 GRCh38 Chromosome 12, 5044239: 5044239
35 KCNA5 NM_002234.3(KCNA5): c.381C> T (p.Ser127=) single nucleotide variant Benign/Likely benign rs45504599 GRCh38 Chromosome 12, 5044528: 5044528
36 KCNA5 NM_002234.3(KCNA5): c.381C> T (p.Ser127=) single nucleotide variant Benign/Likely benign rs45504599 GRCh37 Chromosome 12, 5153694: 5153694
37 KCNA5 NM_002234.3(KCNA5): c.180G> A (p.Ala60=) single nucleotide variant Conflicting interpretations of pathogenicity rs376660949 GRCh38 Chromosome 12, 5044327: 5044327
38 KCNA5 NM_002234.3(KCNA5): c.180G> A (p.Ala60=) single nucleotide variant Conflicting interpretations of pathogenicity rs376660949 GRCh37 Chromosome 12, 5153493: 5153493
39 KCNA5 NM_002234.3(KCNA5): c.1703G> T (p.Gly568Val) single nucleotide variant Uncertain significance rs71581017 GRCh37 Chromosome 12, 5155016: 5155016
40 KCNA5 NM_002234.3(KCNA5): c.1703G> T (p.Gly568Val) single nucleotide variant Uncertain significance rs71581017 GRCh38 Chromosome 12, 5045850: 5045850
41 KCNA5 NM_002234.3(KCNA5) duplication Uncertain significance rs144879674 GRCh37 Chromosome 12, 5153526: 5153558
42 KCNA5 NM_002234.3(KCNA5) duplication Uncertain significance rs144879674 GRCh38 Chromosome 12, 5044360: 5044392
43 KCNA5 NM_002234.3(KCNA5): c.296_298delAAG (p.Glu99del) deletion Uncertain significance rs1314476291 GRCh37 Chromosome 12, 5153609: 5153611
44 KCNA5 NM_002234.3(KCNA5): c.296_298delAAG (p.Glu99del) deletion Uncertain significance rs1314476291 GRCh38 Chromosome 12, 5044443: 5044445
45 KCNA5 NM_002234.3(KCNA5): c.615G> C (p.Leu205=) single nucleotide variant Benign rs12720443 GRCh37 Chromosome 12, 5153928: 5153928
46 KCNA5 NM_002234.3(KCNA5): c.615G> C (p.Leu205=) single nucleotide variant Benign rs12720443 GRCh38 Chromosome 12, 5044762: 5044762
47 KCNA5 NM_002234.3(KCNA5): c.852_869delCCCTCCGGCGCCCCACCA (p.His284_His289del) deletion Uncertain significance rs749443875 GRCh37 Chromosome 12, 5154165: 5154182
48 KCNA5 NM_002234.3(KCNA5): c.852_869delCCCTCCGGCGCCCCACCA (p.His284_His289del) deletion Uncertain significance rs749443875 GRCh38 Chromosome 12, 5044999: 5045016
49 KCNA5 NM_002234.3(KCNA5): c.898G> T (p.Gly300Cys) single nucleotide variant Uncertain significance rs148708451 GRCh38 Chromosome 12, 5045045: 5045045
50 KCNA5 NM_002234.3(KCNA5): c.898G> T (p.Gly300Cys) single nucleotide variant Uncertain significance rs148708451 GRCh37 Chromosome 12, 5154211: 5154211

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

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