chr7:5569225:C>T 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	chr7:5,569,225-5,569,225
hg38	chr7:5,529,594-5,529,594 View the variant detail on this assembly version.

HGVS

ACTB

Type	Transcript	Protein
RefSeq
Ensemble	ENST00000432588.6:c.64G>A	ENST00000432588.6:p.Ala22Thr
	ENST00000473257.3:c.-6-194G>A
	ENST00000493945.6:c.64G>A	ENST00000493945.6:p.Ala22Thr
	ENST00000642480.2:c.64G>A	ENST00000642480.2:p.Ala22Thr
	ENST00000646664.1:c.64G>A	ENST00000646664.1:p.Ala22Thr
	ENST00000674681.1:c.64G>A	ENST00000674681.1:p.Ala22Thr
	ENST00000675515.1:c.64G>A	ENST00000675515.1:p.Ala22Thr
	ENST00000676319.1:c.64G>A	ENST00000676319.1:p.Ala22Thr
	ENST00000676397.1:c.64G>A	ENST00000676397.1:p.Ala22Thr

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:0.006
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance	Likely pathogenic
Review star
Show details

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	tgv28171704	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2013-08-15	criteria provided, single submitter	Baraitser-Winter syndrome 1	germline	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

Annotation

Annotations

Descrption	Source	Links
NM_001101.5(ACTB):c.64G>A (p.Ala22Thr) AND Baraitser-Winter syndrome 1	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: rs587780273 dbSNP
Genome: hg19
Position: chr7:5,569,225-5,569,225
Variant Type: snv
Reference Allele: C
Alternative Allele: T
Filtering Status (HGVD): PASS
Filtering Status (HGVD): LowQual
# of samples (HGVD): 1196
Mean of sample read depth (HGVD): 72.90
Standard deviation of sample read depth (HGVD): 36.54
Number of reference allele (HGVD): 2377
Number of alternative allele (HGVD): 15
Allele Frequency (HGVD): 0.006270903010033445
Gene Symbol (HGVD): ACTB

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