chr2:73914836:G>A Detail (hg38) (ACTG2)

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

Genome

Assembly	Position
hg19	chr2:74,141,963-74,141,963 View the variant detail on this assembly version.
hg38	chr2:73,914,836-73,914,836

HGVS

ACTG2

Type	Transcript	Protein
RefSeq	NM_001615.3:c.770G>A	NP_001606.1:p.Arg257His
	NM_001199893.1:c.641G>A	NP_001186822.1:p.Arg214His
Ensemble	ENST00000345517.8:c.770G>A	ENST00000345517.8:p.Arg257His
	ENST00000409624.1:c.770G>A	ENST00000409624.1:p.Arg257His
	ENST00000409731.7:c.641G>A	ENST00000409731.7:p.Arg214His

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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Links

ACTG2

Type	Database	ID	Link
Gene	MIM	102545	OMIM
	HGNC	145	HGNC
	Ensembl	ENSG00000163017	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
Pathogenic	2012-10-16	criteria provided, single submitter	Inborn genetic diseases	germline	Detail
Pathogenic	2015-05-02	no assertion criteria provided	Chronic intestinal pseudoobstruction	germline	Detail
Pathogenic	2020-03-26	criteria provided, single submitter	Visceral myopathy 1	de novo germline	Detail
Pathogenic	2021-07-15	no assertion criteria provided	Megacystis-microcolon-intestinal hypoperistalsis syndrome 5	germline	Detail
Pathogenic	2022-04-12	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_001615.4(ACTG2):c.770G>A (p.Arg257His) AND Inborn genetic diseases	ClinVar	Detail
NM_001615.4(ACTG2):c.770G>A (p.Arg257His) AND multiple conditions	ClinVar	Detail
NM_001615.4(ACTG2):c.770G>A (p.Arg257His) AND Visceral myopathy 1	ClinVar	Detail
NM_001615.4(ACTG2):c.770G>A (p.Arg257His) AND Megacystis-microcolon-intestinal hypoperistalsis syndr...	ClinVar	Detail
NM_001615.4(ACTG2):c.770G>A (p.Arg257His) AND not provided	ClinVar	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: rs797044959 dbSNP
Genome: hg38
Position: chr2:73,914,836-73,914,836
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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