chr7:5568128:G>A Detail (hg19) (ACTB)

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

Genome

Assembly	Position
hg19	chr7:5,568,128-5,568,128
hg38	chr7:5,528,497-5,528,497 View the variant detail on this assembly version.

HGVS

ACTB

Type	Transcript	Protein
RefSeq
Ensemble	ENST00000432588.6:c.586C>T	ENST00000432588.6:p.Arg196Cys
	ENST00000473257.3:c.457C>T	ENST00000473257.3:p.Arg153Cys
	ENST00000493945.6:c.586C>T	ENST00000493945.6:p.Arg196Cys
	ENST00000642480.2:c.586C>T	ENST00000642480.2:p.Arg196Cys
	ENST00000646664.1:c.586C>T	ENST00000646664.1:p.Arg196Cys
	ENST00000674681.1:c.586C>T	ENST00000674681.1:p.Arg196Cys
	ENST00000675515.1:c.586C>T	ENST00000675515.1:p.Arg196Cys
	ENST00000676319.1:c.88-714C>T
	ENST00000676397.1:c.586C>T	ENST00000676397.1:p.Arg196Cys

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

ACTB

Type	Database	ID	Link
Gene	MIM	102630	OMIM
	HGNC	132	HGNC
	Ensembl	ENSG00000075624	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	2022-08-23	criteria provided, single submitter	Baraitser-Winter syndrome 1	de novo germline	Detail
Pathogenic	2020-07-21	criteria provided, single submitter	not provided	germline not provided	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.240	Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation	NA	CLINVAR		Detail
0.240	Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation	De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndr...	UNIPROT	22366783	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001101.5(ACTB):c.586C>T (p.Arg196Cys) AND Baraitser-Winter syndrome 1	ClinVar	Detail
NM_001101.5(ACTB):c.586C>T (p.Arg196Cys) AND not provided	ClinVar	Detail
NA	DisGeNET	Detail
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.	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: rs281875333 dbSNP
Genome: hg19
Position: chr7:5,568,128-5,568,128
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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