MCID: ATR068
MIFTS: 17

Atrial Fibrillation, Familial, 14

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Atrial Fibrillation, Familial, 14

MalaCards integrated aliases for Atrial Fibrillation, Familial, 14:

Name: Atrial Fibrillation, Familial, 14 57 75 29 6 73
Atfb14 57 75
Fibrillation, Atrial, Familial, Type 14 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
atrial fibrillation, familial, 14:
Inheritance autosomal dominant inheritance


Classifications:



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)

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). Affiliated tissues include heart, and related phenotypes are hypertension and paroxysmal atrial fibrillation

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
atrial fibrillation, paroxysmal
saddle-back st-segment elevation in precordial leads
left atrial enlargement on echocardiography (in some patients)

Cardiovascular Vascular:
hypertension (in some patients)


Clinical features from OMIM:

615378

Human phenotypes related to Atrial Fibrillation, Familial, 14:

32
# Description HPO Frequency HPO Source Accession
1 hypertension 32 occasional (7.5%) HP:0000822
2 paroxysmal atrial fibrillation 32 very rare (1%) HP:0004757
3 prolonged pr interval 32 very rare (1%) HP:0012248
4 st segment elevation 32 very rare (1%) HP:0012251

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

MalaCards organs/tissues related to Atrial Fibrillation, Familial, 14:

41
Heart

Publications for Atrial Fibrillation, Familial, 14

Variations for Atrial Fibrillation, Familial, 14

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

75
# Symbol AA change Variation ID SNP ID
1 SCN2B p.Arg28Trp VAR_029131 rs17121819
2 SCN2B p.Arg28Gln VAR_070229 rs72544145

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

6
(show all 30)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN2B NM_004588.4(SCN2B): c.83G> A (p.Arg28Gln) single nucleotide variant Pathogenic rs72544145 GRCh37 Chromosome 11, 118039454: 118039454
2 SCN2B NM_004588.4(SCN2B): c.83G> A (p.Arg28Gln) single nucleotide variant Pathogenic rs72544145 GRCh38 Chromosome 11, 118168739: 118168739
3 SCN2B NM_004588.4(SCN2B): c.449-2A> C single nucleotide variant Uncertain significance rs1085307094 GRCh38 Chromosome 11, 118167088: 118167088
4 SCN2B NM_004588.4(SCN2B): c.449-2A> C single nucleotide variant Uncertain significance rs1085307094 GRCh37 Chromosome 11, 118037803: 118037803
5 SCN2B NM_004588.4(SCN2B): c.410G> A (p.Arg137His) single nucleotide variant Uncertain significance rs878854712 GRCh38 Chromosome 11, 118168123: 118168123
6 SCN2B NM_004588.4(SCN2B): c.410G> A (p.Arg137His) single nucleotide variant Uncertain significance rs878854712 GRCh37 Chromosome 11, 118038838: 118038838
7 SCN2B NM_004588.4(SCN2B): c.25C> T (p.Arg9Cys) single nucleotide variant Uncertain significance rs878854711 GRCh38 Chromosome 11, 118176407: 118176407
8 SCN2B NM_004588.4(SCN2B): c.25C> T (p.Arg9Cys) single nucleotide variant Uncertain significance rs878854711 GRCh37 Chromosome 11, 118047122: 118047122
9 SCN2B NM_004588.4(SCN2B): c.292C> G (p.Arg98Gly) single nucleotide variant Uncertain significance rs771234231 GRCh38 Chromosome 11, 118168241: 118168241
10 SCN2B NM_004588.4(SCN2B): c.292C> G (p.Arg98Gly) single nucleotide variant Uncertain significance rs771234231 GRCh37 Chromosome 11, 118038956: 118038956
11 SCN2B NM_004588.4(SCN2B): c.251G> A (p.Arg84His) single nucleotide variant Uncertain significance rs201460753 GRCh38 Chromosome 11, 118168282: 118168282
12 SCN2B NM_004588.4(SCN2B): c.251G> A (p.Arg84His) single nucleotide variant Uncertain significance rs201460753 GRCh37 Chromosome 11, 118038997: 118038997
13 SCN2B NM_004588.4(SCN2B): c.150C> T (p.Cys50=) single nucleotide variant Likely benign rs751437266 GRCh38 Chromosome 11, 118168672: 118168672
14 SCN2B NM_004588.4(SCN2B): c.150C> T (p.Cys50=) single nucleotide variant Likely benign rs751437266 GRCh37 Chromosome 11, 118039387: 118039387
15 SCN2B NM_004588.4(SCN2B): c.250C> T (p.Arg84Cys) single nucleotide variant Uncertain significance rs760669515 GRCh37 Chromosome 11, 118038998: 118038998
16 SCN2B NM_004588.4(SCN2B): c.250C> T (p.Arg84Cys) single nucleotide variant Uncertain significance rs760669515 GRCh38 Chromosome 11, 118168283: 118168283
17 SCN2B NM_004588.4(SCN2B): c.615C> T (p.Asp205=) single nucleotide variant Likely benign rs201971719 GRCh37 Chromosome 11, 118037635: 118037635
18 SCN2B NM_004588.4(SCN2B): c.615C> T (p.Asp205=) single nucleotide variant Likely benign rs201971719 GRCh38 Chromosome 11, 118166920: 118166920
19 SCN2B NM_004588.4(SCN2B): c.140G> A (p.Arg47His) single nucleotide variant Uncertain significance rs17121818 GRCh37 Chromosome 11, 118039397: 118039397
20 SCN2B NM_004588.4(SCN2B): c.140G> A (p.Arg47His) single nucleotide variant Uncertain significance rs17121818 GRCh38 Chromosome 11, 118168682: 118168682
21 SCN2B NM_004588.4(SCN2B): c.578C> G (p.Thr193Arg) single nucleotide variant Uncertain significance rs115353159 GRCh37 Chromosome 11, 118037672: 118037672
22 SCN2B NM_004588.4(SCN2B): c.578C> G (p.Thr193Arg) single nucleotide variant Uncertain significance rs115353159 GRCh38 Chromosome 11, 118166957: 118166957
23 SCN2B NM_004588.4(SCN2B): c.349G> A (p.Val117Met) single nucleotide variant Uncertain significance rs754755062 GRCh38 Chromosome 11, 118168184: 118168184
24 SCN2B NM_004588.4(SCN2B): c.349G> A (p.Val117Met) single nucleotide variant Uncertain significance rs754755062 GRCh37 Chromosome 11, 118038899: 118038899
25 SCN2B NM_004588.4(SCN2B): c.238-6C> T single nucleotide variant Likely benign rs200842493 GRCh38 Chromosome 11, 118168301: 118168301
26 SCN2B NM_004588.4(SCN2B): c.238-6C> T single nucleotide variant Likely benign rs200842493 GRCh37 Chromosome 11, 118039016: 118039016
27 SCN2B NM_004588.4(SCN2B): c.498C> T (p.Val166=) single nucleotide variant Benign/Likely benign rs200709238 GRCh37 Chromosome 11, 118037752: 118037752
28 SCN2B NM_004588.4(SCN2B): c.498C> T (p.Val166=) single nucleotide variant Benign/Likely benign rs200709238 GRCh38 Chromosome 11, 118167037: 118167037
29 SCN2B NM_004588.4(SCN2B): c.461G> A (p.Arg154Gln) single nucleotide variant Uncertain significance rs753389706 GRCh38 Chromosome 11, 118167074: 118167074
30 SCN2B NM_004588.4(SCN2B): c.461G> A (p.Arg154Gln) single nucleotide variant Uncertain significance rs753389706 GRCh37 Chromosome 11, 118037789: 118037789

Expression for Atrial Fibrillation, Familial, 14

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Pathways for Atrial Fibrillation, Familial, 14

GO Terms for Atrial Fibrillation, Familial, 14

Sources for Atrial Fibrillation, Familial, 14

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