chr17:79478256:G>A 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>T	NP_001186883.1:p.Arg254Trp
Ensemble	ENST00000681052.1:c.760C>T	ENST00000681052.1:p.Arg254Trp
	ENST00000644774.2:c.733C>T	ENST00000644774.2:p.Arg245Trp
	ENST00000573283.7:c.760C>T	ENST00000573283.7:p.Arg254Trp
	ENST00000679480.1:c.760C>T	ENST00000679480.1:p.Arg254Trp
	ENST00000575087.5:c.760C>T	ENST00000575087.5:p.Arg254Trp
	ENST00000615544.5:c.760C>T	ENST00000615544.5:p.Arg254Trp
	ENST00000575659.6:c.760C>T	ENST00000575659.6:p.Arg254Trp
	ENST00000570382.2:c.760C>T	ENST00000570382.2:p.Arg254Trp
	ENST00000571691.6:c.688C>T	ENST00000571691.6:p.Arg230Trp
	ENST00000575842.5:c.760C>T	ENST00000575842.5:p.Arg254Trp
	ENST00000571721.6:c.760C>T	ENST00000571721.6:p.Arg254Trp
	ENST00000575994.6:c.760C>T	ENST00000575994.6:p.Arg254Trp

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
Review star
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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	2021-10-04	criteria provided, single submitter	Baraitser-Winter syndrome 2	de novo germline	Detail
Likely pathogenic	2022-07-07	criteria provided, multiple submitters, no conflicts	not provided	germline not provided	Detail
Likely pathogenic		no assertion criteria provided	lissencephaly	unknown	Detail
Pathogenic	2022-02-05	criteria provided, single submitter	Baraitser-Winter syndrome 2,Autosomal dominant nonsyndromic hearing loss 20	germline	Detail
Pathogenic	2022-02-05	criteria provided, single submitter	Baraitser-Winter syndrome 2,Autosomal dominant nonsyndromic hearing loss 20	germline	Detail
Likely pathogenic	2022-11-12	criteria provided, single submitter	Autosomal dominant nonsyndromic hearing loss 20	germline	Detail

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
NM_001614.5(ACTG1):c.760C>T (p.Arg254Trp) AND Baraitser-winter syndrome 2	ClinVar	Detail
NM_001614.5(ACTG1):c.760C>T (p.Arg254Trp) AND not provided	ClinVar	Detail
NM_001614.5(ACTG1):c.760C>T (p.Arg254Trp) AND Lissencephaly	ClinVar	Detail
NM_001614.5(ACTG1):c.760C>T (p.Arg254Trp) AND multiple conditions	ClinVar	Detail
NM_001614.5(ACTG1):c.760C>T (p.Arg254Trp) AND multiple conditions	ClinVar	Detail
NM_001614.5(ACTG1):c.760C>T (p.Arg254Trp) AND Autosomal dominant nonsyndromic hearing loss 20	ClinVar	Detail
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: -
dbSNP: rs281875328 dbSNP
Genome: hg19
Position: chr17:79,478,256-79,478,256
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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