chr2:211424241:C>T Detail (hg38) (ERBB4)

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

Genome

Assembly	Position
hg19	chr2:212,288,966-212,288,966 View the variant detail on this assembly version.
hg38	chr2:211,424,241-211,424,241

HGVS

ERBB4

Type	Transcript	Protein
RefSeq	NM_005235.2:c.2780G>A	NP_005226.1:p.Arg927Gln
	NM_001042599.1:c.2780G>A	NP_001036064.1:p.Arg927Gln
Ensemble	ENST00000260943.11:c.2750G>A	ENST00000260943.11:p.Arg917Gln
	ENST00000342788.9:c.2780G>A	ENST00000342788.9:p.Arg927Gln
	ENST00000436443.5:c.2780G>A	ENST00000436443.5:p.Arg927Gln

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	Pathogenic
Review star
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Links

ERBB4

Type	Database	ID	Link
Gene	MIM	600543	OMIM
	HGNC	3432	HGNC
	Ensembl	ENSG00000178568	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM4090866	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic		no assertion criteria provided	not provided	germline	Detail
Pathogenic	2013-11-07	no assertion criteria provided	amyotrophic lateral sclerosis type 19	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.240	AMYOTROPHIC LATERAL SCLEROSIS 19	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_005235.3(ERBB4):c.2780G>A (p.Arg927Gln) AND not provided	ClinVar	Detail
NM_005235.3(ERBB4):c.2780G>A (p.Arg927Gln) AND Amyotrophic lateral sclerosis type 19	ClinVar	Detail
NA	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: rs397514262 dbSNP
Genome: hg38
Position: chr2:211,424,241-211,424,241
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8640
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): 121002
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): 1.652865241896828E-5

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