chr3:38655522:G>A Detail (hg19) (SCN5A)

Information

Genome

Assembly Position
hg19 chr3:38,655,522-38,655,522
hg38 chr3:38,614,031-38,614,031 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000335.4:c.612-197C>T
NM_198056.2:c.612-197C>T
NM_001099404.1:c.647C>T NP_001092874.1:p.Ser216Leu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Benign Likely benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 600163 OMIM
HGNC 10593 HGNC
Ensembl ENSG00000183873 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2021-03-03 criteria provided, single submitter Congenital long QT syndrome germline Detail
Likely benign 2019-01-07 criteria provided, single submitter Cardiac arrhythmia germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.335 long QT syndrome Five variants (S216L, T1304M, F1486L, F2004L, and P2006A) exhibited significantl... BeFree 17210841 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001099404.2(SCN5A):c.647C>T (p.Ser216Leu) AND Congenital long QT syndrome ClinVar Detail
NM_001099404.2(SCN5A):c.647C>T (p.Ser216Leu) AND Cardiac arrhythmia ClinVar Detail
Five variants (S216L, T1304M, F1486L, F2004L, and P2006A) exhibited significantly increased persiste... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs201002736 dbSNP
Genome
hg19
Position
chr3:38,655,522-38,655,522
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
3806
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
51280
Allele Counts in All Race (ExAC)
17
Heterozygous Counts in All Race (ExAC)
17
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
3.315132605304212E-4
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