chr7:73477543:G>A Detail (hg19) (ELN)

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

Information

Genome

Assembly	Position
hg19	chr7:73,477,543-73,477,543
hg38	chr7:74,063,213-74,063,213 View the variant detail on this assembly version.

HGVS

ELN

Type	Transcript	Protein
RefSeq	NM_000501.3:c.1847G>A	NP_000492.2:p.Gly616Asp
	NM_001081755.2:c.1847G>A	NP_001075224.1:p.Gly616Asp
	NM_001278913.1:c.1604G>A	NP_001265842.1:p.Gly535Asp
	NM_001081754.2:c.1862G>A	NP_001075223.1:p.Gly621Asp
	NM_001081752.2:c.1760G>A	NP_001075221.1:p.Gly587Asp
	NM_001278916.1:c.1703G>A	NP_001265845.1:p.Gly568Asp
	NM_001278914.1:c.1775G>A	NP_001265843.1:p.Gly592Asp
	NM_001081753.2:c.1805G>A	NP_001075222.1:p.Gly602Asp
	NM_001278912.1:c.1847G>A	NP_001265841.1:p.Gly616Asp
	NM_001278917.1:c.1817G>A	NP_001265846.1:p.Gly606Asp
	NM_001278918.1:c.1580G>A	NP_001265847.1:p.Gly527Asp
Ensemble	ENST00000252034.12:c.1847G>A	ENST00000252034.12:p.Gly616Asp
	ENST00000320399.10:c.1946G>A	ENST00000320399.10:p.Gly649Asp
	ENST00000320492.11:c.1604G>A	ENST00000320492.11:p.Gly535Asp
	ENST00000357036.9:c.1862G>A	ENST00000357036.9:p.Gly621Asp
	ENST00000380553.8:c.1439G>A	ENST00000380553.8:p.Gly480Asp
	ENST00000380562.8:c.1865G>A	ENST00000380562.8:p.Gly622Asp
	ENST00000380575.8:c.1760G>A	ENST00000380575.8:p.Gly587Asp
	ENST00000380576.9:c.1790G>A	ENST00000380576.9:p.Gly597Asp
	ENST00000380584.8:c.1703G>A	ENST00000380584.8:p.Gly568Asp
	ENST00000414324.5:c.1775G>A	ENST00000414324.5:p.Gly592Asp
	ENST00000429192.5:c.1805G>A	ENST00000429192.5:p.Gly602Asp
	ENST00000445912.5:c.1847G>A	ENST00000445912.5:p.Gly616Asp
	ENST00000458204.5:c.1817G>A	ENST00000458204.5:p.Gly606Asp
	ENST00000621115.4:c.1580G>A	ENST00000621115.4:p.Gly527Asp
	ENST00000692049.1:c.2033G>A	ENST00000692049.1:p.Gly678Asp

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
Review star	[No Data.]
Show details

Links

ELN

Type	Database	ID	Link
Gene	MIM	130160	OMIM
	HGNC	3327	HGNC
	Ensembl	ENSG00000049540	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

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
<0.001	congenital heart defects	Interestingly, all patients with cardiac involvement were homozygous for one of ...	BeFree	10737981	Detail
<0.001	congenital heart defects	Interestingly, all patients with cardiac involvement were homozygous for one of ...	BeFree	10737981	Detail
<0.001	Cardiomyopathies	Interestingly, all patients with cardiac involvement were homozygous for one of ...	BeFree	10737981	Detail
<0.001	Cardiomyopathies	Interestingly, all patients with cardiac involvement were homozygous for one of ...	BeFree	10737981	Detail

Annotation

Annotations

Descrption	Source	Links
Interestingly, all patients with cardiac involvement were homozygous for one of these mutations: R59...	DisGeNET	Detail
Interestingly, all patients with cardiac involvement were homozygous for one of these mutations: R59...	DisGeNET	Detail
Interestingly, all patients with cardiac involvement were homozygous for one of these mutations: R59...	DisGeNET	Detail
Interestingly, all patients with cardiac involvement were homozygous for one of these mutations: R59...	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: -
Genome: hg19
Position: chr7:73,477,543-73,477,543
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 6126
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): 80508
Allele Counts in All Race (ExAC): 2
Heterozygous Counts in All Race (ExAC): 2
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 2.484225170169424E-5

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