ATFB14
MCID: ATR068
MIFTS: 21

Atrial Fibrillation, Familial, 14 (ATFB14)

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

Aliases & Classifications for Atrial Fibrillation, Familial, 14

MalaCards integrated aliases for Atrial Fibrillation, Familial, 14:

Name: Atrial Fibrillation, Familial, 14 57 72 29 6 70
Atfb14 57 72
Fibrillation, Atrial, Familial, Type 14 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
saddle-back st-segment elevation shows beat-to-beat and day-to-day variability


HPO:

31
atrial fibrillation, familial, 14:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 615378
OMIM Phenotypic Series 57 PS608583
MeSH 44 D001281
UMLS 70 C3809312

Summaries for Atrial Fibrillation, Familial, 14

OMIM® : 57 Atrial fibrillation 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 familial atrial fibrillation, see ATFB1 (608583). (615378) (Updated 20-May-2021)

MalaCards based summary : Atrial Fibrillation, Familial, 14, is also known as atfb14. An important gene associated with Atrial Fibrillation, Familial, 14 is SCN2B (Sodium Voltage-Gated Channel Beta Subunit 2). Related phenotypes are hypertension and paroxysmal atrial fibrillation

UniProtKB/Swiss-Prot : 72 Atrial fibrillation, familial, 14: 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, 14

Human phenotypes related to Atrial Fibrillation, Familial, 14:

31
# Description HPO Frequency HPO Source Accession
1 hypertension 31 occasional (7.5%) HP:0000822
2 paroxysmal atrial fibrillation 31 very rare (1%) HP:0004757
3 st segment elevation 31 very rare (1%) HP:0012251
4 prolonged pr interval 31 very rare (1%) HP:0012248

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Cardiovascular Vascular:
hypertension (in some patients)

Cardiovascular Heart:
atrial fibrillation, paroxysmal
saddle-back st-segment elevation in precordial leads
left atrial enlargement on echocardiography (in some patients)

Clinical features from OMIM®:

615378 (Updated 20-May-2021)

Drugs & Therapeutics for Atrial Fibrillation, Familial, 14

Search Clinical Trials , NIH Clinical Center for Atrial Fibrillation, Familial, 14

Genetic Tests for Atrial Fibrillation, Familial, 14

Genetic tests related to Atrial Fibrillation, Familial, 14:

# Genetic test Affiliating Genes
1 Atrial Fibrillation, Familial, 14 29 SCN2B

Anatomical Context for Atrial Fibrillation, Familial, 14

Publications for Atrial Fibrillation, Familial, 14

Articles related to Atrial Fibrillation, Familial, 14:

# Title Authors PMID Year
1
Mutations in sodium channel β1- and β2-subunits associated with atrial fibrillation. 57 6
19808477 2009
2
Identification of a genetic locus for familial atrial fibrillation. 57
9070470 1997

Variations for Atrial Fibrillation, Familial, 14

ClinVar genetic disease variations for Atrial Fibrillation, Familial, 14:

6 (show all 33)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SCN2B NM_004588.5(SCN2B):c.82C>T (p.Arg28Trp) SNV Pathogenic 60769 rs17121819 GRCh37: 11:118039455-118039455
GRCh38: 11:118168740-118168740
2 SCN2B NM_004588.5(SCN2B):c.83G>A (p.Arg28Gln) SNV Pathogenic 60770 rs72544145 GRCh37: 11:118039454-118039454
GRCh38: 11:118168739-118168739
3 SCN2B NM_004588.5(SCN2B):c.25C>T (p.Arg9Cys) SNV Uncertain significance 239958 rs878854711 GRCh37: 11:118047122-118047122
GRCh38: 11:118176407-118176407
4 SCN2B NM_004588.5(SCN2B):c.410G>A (p.Arg137His) SNV Uncertain significance 239959 rs878854712 GRCh37: 11:118038838-118038838
GRCh38: 11:118168123-118168123
5 SCN2B NM_004588.5(SCN2B):c.292C>G (p.Arg98Gly) SNV Uncertain significance 408877 rs771234231 GRCh37: 11:118038956-118038956
GRCh38: 11:118168241-118168241
6 SCN2B NM_004588.5(SCN2B):c.578C>G (p.Thr193Arg) SNV Uncertain significance 408874 rs115353159 GRCh37: 11:118037672-118037672
GRCh38: 11:118166957-118166957
7 SCN2B NM_004588.5(SCN2B):c.140G>A (p.Arg47His) SNV Uncertain significance 408875 rs17121818 GRCh37: 11:118039397-118039397
GRCh38: 11:118168682-118168682
8 SCN2B NM_004588.5(SCN2B):c.251G>A (p.Arg84His) SNV Uncertain significance 408878 rs201460753 GRCh37: 11:118038997-118038997
GRCh38: 11:118168282-118168282
9 SCN2B NM_004588.5(SCN2B):c.250C>T (p.Arg84Cys) SNV Uncertain significance 408876 rs760669515 GRCh37: 11:118038998-118038998
GRCh38: 11:118168283-118168283
10 SCN2B NM_004588.5(SCN2B):c.449-2A>C SNV Uncertain significance 225465 rs1085307094 GRCh37: 11:118037803-118037803
GRCh38: 11:118167088-118167088
11 SCN2B NM_004588.5(SCN2B):c.563A>G (p.Glu188Gly) SNV Uncertain significance 839407 GRCh37: 11:118037687-118037687
GRCh38: 11:118166972-118166972
12 SCN2B NM_004588.5(SCN2B):c.629C>T (p.Pro210Leu) SNV Uncertain significance 191493 rs144248214 GRCh37: 11:118037621-118037621
GRCh38: 11:118166906-118166906
13 SCN2B NM_004588.5(SCN2B):c.281G>A (p.Arg94Gln) SNV Uncertain significance 935689 GRCh37: 11:118038967-118038967
GRCh38: 11:118168252-118168252
14 SCN2B NM_004588.5(SCN2B):c.625_626delinsCC (p.Asn209Pro) Indel Uncertain significance 422854 rs1064796044 GRCh37: 11:118037624-118037625
GRCh38: 11:118166909-118166910
15 SCN2B NM_004588.5(SCN2B):c.640G>A (p.Ala214Thr) SNV Uncertain significance 947137 GRCh37: 11:118037610-118037610
GRCh38: 11:118166895-118166895
16 SCN2B NM_004588.5(SCN2B):c.118G>A (p.Val40Ile) SNV Uncertain significance 191494 rs200761835 GRCh37: 11:118039419-118039419
GRCh38: 11:118168704-118168704
17 SCN2B NM_004588.5(SCN2B):c.255G>T (p.Met85Ile) SNV Uncertain significance 956126 GRCh37: 11:118038993-118038993
GRCh38: 11:118168278-118168278
18 SCN2B NM_004588.5(SCN2B):c.154T>C (p.Phe52Leu) SNV Uncertain significance 972271 GRCh37: 11:118039383-118039383
GRCh38: 11:118168668-118168668
19 SCN2B NM_004588.5(SCN2B):c.5A>G (p.His2Arg) SNV Uncertain significance 1006173 GRCh37: 11:118047142-118047142
GRCh38: 11:118176427-118176427
20 SCN2B NM_004588.5(SCN2B):c.237G>C (p.Met79Ile) SNV Uncertain significance 1022738 GRCh37: 11:118039300-118039300
GRCh38: 11:118168585-118168585
21 SCN2B NM_004588.5(SCN2B):c.412G>A (p.Gly138Ser) SNV Uncertain significance 1023340 GRCh37: 11:118038836-118038836
GRCh38: 11:118168121-118168121
22 SCN2B NM_004588.5(SCN2B):c.44C>T (p.Thr15Met) SNV Uncertain significance 191495 rs201373014 GRCh37: 11:118047103-118047103
GRCh38: 11:118176388-118176388
23 SCN2B NM_004588.5(SCN2B):c.292C>T (p.Arg98Cys) SNV Uncertain significance 1059103 GRCh37: 11:118038956-118038956
GRCh38: 11:118168241-118168241
24 SCN2B NM_004588.5(SCN2B):c.93G>T (p.Glu31Asp) SNV Uncertain significance 567878 rs767173208 GRCh37: 11:118039444-118039444
GRCh38: 11:118168729-118168729
25 SCN2B NM_004588.5(SCN2B):c.611C>T (p.Thr204Met) SNV Uncertain significance 655020 rs140034265 GRCh37: 11:118037639-118037639
GRCh38: 11:118166924-118166924
26 SCN2B NM_004588.5(SCN2B):c.632A>G (p.Asp211Gly) SNV Uncertain significance 60776 rs587777023 GRCh37: 11:118037618-118037618
GRCh38: 11:118166903-118166903
27 SCN2B NM_004588.5(SCN2B):c.349G>A (p.Val117Met) SNV Uncertain significance 477770 rs754755062 GRCh37: 11:118038899-118038899
GRCh38: 11:118168184-118168184
28 SCN2B NM_004588.5(SCN2B):c.461G>A (p.Arg154Gln) SNV Uncertain significance 544054 rs753389706 GRCh37: 11:118037789-118037789
GRCh38: 11:118167074-118167074
29 SCN2B NM_004588.5(SCN2B):c.129C>T (p.Gly43=) SNV Likely benign 508188 rs150955748 GRCh37: 11:118039408-118039408
GRCh38: 11:118168693-118168693
30 SCN2B NM_004588.5(SCN2B):c.357G>A (p.Pro119=) SNV Likely benign 512603 rs149169244 GRCh37: 11:118038891-118038891
GRCh38: 11:118168176-118168176
31 SCN2B NM_004588.5(SCN2B):c.470C>T (p.Thr157Met) SNV Likely benign 700158 rs760333798 GRCh37: 11:118037780-118037780
GRCh38: 11:118167065-118167065
32 SCN2B NM_004588.5(SCN2B):c.238-6C>T SNV Likely benign 477769 rs200842493 GRCh37: 11:118039016-118039016
GRCh38: 11:118168301-118168301
33 SCN2B NM_004588.5(SCN2B):c.498C>T (p.Val166=) SNV Benign 515329 rs200709238 GRCh37: 11:118037752-118037752
GRCh38: 11:118167037-118167037

UniProtKB/Swiss-Prot genetic disease variations for Atrial Fibrillation, Familial, 14:

72
# Symbol AA change Variation ID SNP ID
1 SCN2B p.Arg28Trp VAR_029131 rs17121819
2 SCN2B p.Arg28Gln VAR_070229 rs72544145

Expression for Atrial Fibrillation, Familial, 14

Search GEO for disease gene expression data for Atrial Fibrillation, Familial, 14.

Pathways for Atrial Fibrillation, Familial, 14

GO Terms for Atrial Fibrillation, Familial, 14

Sources for Atrial Fibrillation, Familial, 14

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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