chr17:79478256:G>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	chr17:79,478,256-79,478,256
hg38	chr17:81,511,230-81,511,230 View the variant detail on this assembly version.

HGVS

ACTG1

Type	Transcript	Protein
RefSeq	NM_001199954.1:c.760C>A	NP_001186883.1:p.Arg254=
Ensemble	ENST00000681052.1:c.760C>A	ENST00000681052.1:p.Arg254=
	ENST00000644774.2:c.733C>A	ENST00000644774.2:p.Arg245=
	ENST00000573283.7:c.760C>A	ENST00000573283.7:p.Arg254=
	ENST00000615544.5:c.760C>A	ENST00000615544.5:p.Arg254=
	ENST00000575659.6:c.760C>A	ENST00000575659.6:p.Arg254=
	ENST00000570382.2:c.760C>A	ENST00000570382.2:p.Arg254=
	ENST00000679480.1:c.760C>A	ENST00000679480.1:p.Arg254=
	ENST00000575087.5:c.760C>A	ENST00000575087.5:p.Arg254=
	ENST00000575842.5:c.760C>A	ENST00000575842.5:p.Arg254=
	ENST00000571691.6:c.688C>A	ENST00000571691.6:p.Arg230=
	ENST00000571721.6:c.760C>A	ENST00000571721.6:p.Arg254=
	ENST00000575994.6:c.760C>A	ENST00000575994.6:p.Arg254=

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

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

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.240	Baraitser-Winter syndrome 2	De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndr...	UNIPROT	22366783	Detail
0.240	Baraitser-Winter syndrome 2	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.	DisGeNET	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: -
Genome: hg19
Position: chr17:79,478,256-79,478,256
Variant Type: snv
Reference Allele: G
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8636
East Asian Allele Counts (ExAC): 1
East Asian Heterozygous Counts (ExAC): 1
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 1.157943492357573E-4
Chromosome Counts in All Race (ExAC): 119698
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.35435846881318E-6

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