chr17:79478418:A>T Detail (hg19) (ACTG1)

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

Genome

Assembly	Position
hg19	chr17:79,478,418-79,478,418
hg38	chr17:81,511,392-81,511,392 View the variant detail on this assembly version.

HGVS

ACTG1

Type	Transcript	Protein
RefSeq	NM_001199954.1:c.598T>A	NP_001186883.1:p.Phe200Ile
Ensemble	ENST00000679480.1:c.598T>A	ENST00000679480.1:p.Phe200Ile
	ENST00000575087.5:c.598T>A	ENST00000575087.5:p.Phe200Ile
	ENST00000615544.5:c.598T>A	ENST00000615544.5:p.Phe200Ile
	ENST00000575659.6:c.598T>A	ENST00000575659.6:p.Phe200Ile
	ENST00000570382.2:c.598T>A	ENST00000570382.2:p.Phe200Ile
	ENST00000681052.1:c.598T>A	ENST00000681052.1:p.Phe200Ile
	ENST00000644774.2:c.571T>A	ENST00000644774.2:p.Phe191Ile
	ENST00000573283.7:c.598T>A	ENST00000573283.7:p.Phe200Ile
	ENST00000571721.6:c.598T>A	ENST00000571721.6:p.Phe200Ile
	ENST00000575994.6:c.598T>A	ENST00000575994.6:p.Phe200Ile
	ENST00000575842.5:c.598T>A	ENST00000575842.5:p.Phe200Ile
	ENST00000571691.6:c.526T>A	ENST00000571691.6:p.Phe176Ile

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely pathogenic
Review star
Show details

Links

ACTG1

Type	Database	ID	Link
Gene	MIM	102560	OMIM
	HGNC	144	HGNC
	Ensembl	ENSG00000184009	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
Likely pathogenic	2013-06-28	criteria provided, single submitter	Baraitser-Winter syndrome 2	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.240	Baraitser-Winter syndrome 2	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_001614.5(ACTG1):c.598T>A (p.Phe200Ile) AND Baraitser-winter syndrome 2	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: rs587780275 dbSNP
Genome: hg19
Position: chr17:79,478,418-79,478,418
Variant Type: snv
Reference Allele: A
Alternative Allele: T

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