chr5:86672329:C>T Detail (hg19) (CCNH, RASA1)

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

Genome

Assembly	Position
hg19	chr5:86,672,329-86,672,329
hg38	chr5:87,376,512-87,376,512 View the variant detail on this assembly version.

HGVS

RASA1

Type	Transcript	Protein
RefSeq	NM_002890.2:c.2131C>T	NP_002881.1:p.Arg711Ter
	NM_022650.2:c.1600C>T	NP_072179.1:p.Arg534Ter
Ensemble	ENST00000274376.11:c.2131C>T	ENST00000274376.11:p.Arg711Ter
	ENST00000456692.6:c.1600C>T	ENST00000456692.6:p.Arg534Ter
	ENST00000506290.1:c.1633C>T	ENST00000506290.1:p.Arg545Ter
	ENST00000512763.5:c.1630C>T	ENST00000512763.5:p.Arg544Ter

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

RASA1

Type	Database	ID	Link
Gene	MIM	139150	OMIM
	HGNC	9871	HGNC
	Ensembl	ENSG00000145715	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM1671747	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2021-09-01	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2022-01-12	criteria provided, single submitter	Capillary malformation-arteriovenous malformation 1,Basal cell carcinoma, susceptibility to, 1	unknown	Detail
Pathogenic	2022-01-12	criteria provided, single submitter	Capillary malformation-arteriovenous malformation 1,Basal cell carcinoma, susceptibility to, 1	unknown	Detail
Pathogenic	2023-02-16	criteria provided, single submitter	Capillary malformation-arteriovenous malformation syndrome	germline	Detail
Pathogenic	2015-11-24	criteria provided, single submitter		germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_002890.3(RASA1):c.2131C>T (p.Arg711Ter) AND not provided	ClinVar	Detail
NM_002890.3(RASA1):c.2131C>T (p.Arg711Ter) AND multiple conditions	ClinVar	Detail
NM_002890.3(RASA1):c.2131C>T (p.Arg711Ter) AND multiple conditions	ClinVar	Detail
NM_002890.3(RASA1):c.2131C>T (p.Arg711Ter) AND Capillary malformation-arteriovenous malformation syn...	ClinVar	Detail
NM_002890.3(RASA1):c.2131C>T (p.Arg711Ter) AND Cardiovascular phenotype	ClinVar	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: rs863223718 dbSNP
Genome: hg19
Position: chr5:86,672,329-86,672,329
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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