chr3:38645378:G>C Detail (hg19) (SCN5A)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr3:38,645,378-38,645,378
hg38	chr3:38,603,887-38,603,887 View the variant detail on this assembly version.

HGVS

SCN5A

Type	Transcript	Protein
RefSeq	NM_000335.4:c.1715C>G	NP_000326.2:p.Ala572Gly
	NM_198056.2:c.1715C>G	NP_932173.1:p.Ala572Gly
	NM_001099404.1:c.1715C>G	NP_001092874.1:p.Ala572Gly
	NM_001160160.1:c.1715C>G	NP_001153632.1:p.Ala572Gly
Ensemble	ENST00000333535.9:c.1715C>G	ENST00000333535.9:p.Ala572Gly
	ENST00000413689.6:c.1715C>G	ENST00000413689.6:p.Ala572Gly
	ENST00000414099.6:c.1715C>G	ENST00000414099.6:p.Ala572Gly
	ENST00000423572.7:c.1715C>G	ENST00000423572.7:p.Ala572Gly
	ENST00000449557.6:c.1715C>G	ENST00000449557.6:p.Ala572Gly
	ENST00000450102.6:c.1715C>G	ENST00000450102.6:p.Ala572Gly
	ENST00000455624.6:c.1715C>G	ENST00000455624.6:p.Ala572Gly

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
Review star
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Links

SCN5A

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
Uncertain significance	2019-09-13	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.335	long QT syndrome	In contrast, in 6 of 60 women (10%), we identified 5 rare missense variants in S...	BeFree	18071069	Detail
0.130	Congenital long QT syndrome	NA	CLINVAR		Detail
0.244	Paroxysmal familial ventricular fibrillation	NA	CLINVAR		Detail
0.440	long QT syndrome 3	A cardiac channel gene screen for LQTS-causing mutations in KCNQ1 (LQT1), KCNH2 ...	UNIPROT	15840476	Detail
0.240	Atrial fibrillation, familial, 10	Compendium of cardiac channel mutations in 541 consecutive unrelated patients re...	UNIPROT	15840476	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000335.5(SCN5A):c.1715C>G (p.Ala572Gly) AND not provided	ClinVar	Detail
In contrast, in 6 of 60 women (10%), we identified 5 rare missense variants in SCN5A that either had...	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
A cardiac channel gene screen for LQTS-causing mutations in KCNQ1 (LQT1), KCNH2 (LQT2), SCN5A (LQT3)...	DisGeNET	Detail
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT s...	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: rs36210423 dbSNP
Genome: hg19
Position: chr3:38,645,378-38,645,378
Variant Type: snv
Reference Allele: G
Alternative Allele: C

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