chr17:79478933: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	chr17:79,478,933-79,478,933
hg38	chr17:81,511,907-81,511,907 View the variant detail on this assembly version.

HGVS

ACTG1

Type	Transcript	Protein
RefSeq	NM_001199954.1:c.359C>T	NP_001186883.1:p.Thr120Ile
Ensemble	ENST00000575994.6:c.359C>T	ENST00000575994.6:p.Thr120Ile
	ENST00000571721.6:c.359C>T	ENST00000571721.6:p.Thr120Ile
	ENST00000575842.5:c.359C>T	ENST00000575842.5:p.Thr120Ile
	ENST00000571691.6:c.339+20C>T
	ENST00000570382.2:c.359C>T	ENST00000570382.2:p.Thr120Ile
	ENST00000575659.6:c.359C>T	ENST00000575659.6:p.Thr120Ile
	ENST00000615544.5:c.359C>T	ENST00000615544.5:p.Thr120Ile
	ENST00000575087.5:c.359C>T	ENST00000575087.5:p.Thr120Ile
	ENST00000679480.1:c.359C>T	ENST00000679480.1:p.Thr120Ile
	ENST00000573283.7:c.359C>T	ENST00000573283.7:p.Thr120Ile
	ENST00000644774.2:c.332C>T	ENST00000644774.2:p.Thr111Ile
	ENST00000681052.1:c.359C>T	ENST00000681052.1:p.Thr120Ile

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
Pathogenic	2020-02-28	criteria provided, single submitter	Baraitser-Winter syndrome 2	de novo germline	Detail
not provided		no assertion provided	not provided	not provided	Detail
Likely pathogenic	2021-11-23	criteria provided, single submitter		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.359C>T (p.Thr120Ile) AND Baraitser-winter syndrome 2	ClinVar	Detail
NM_001614.5(ACTG1):c.359C>T (p.Thr120Ile) AND not provided	ClinVar	Detail
NM_001614.5(ACTG1):c.359C>T (p.Thr120Ile) AND See cases	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: rs281875325 dbSNP
Genome: hg19
Position: chr17:79,478,933-79,478,933
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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