chr12:52309967:G>C Detail (hg19) (ACVRL1)

Information

Genome

Assembly Position
hg19 chr12:52,309,967-52,309,967
hg38 chr12:51,916,183-51,916,183 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001077401.1:c.1238G>C NP_001070869.1:p.Trp413Ser
NM_000020.2:c.1196G>C NP_000011.2:p.Trp399Ser
Ensemble ENST00000713619.1:c.1091G>C ENST00000713619.1:p.Trp364Ser
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 601284 OMIM
HGNC 175 HGNC
Ensembl ENSG00000139567 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 2003-12-01 no assertion criteria provided Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia germline Detail
Likely pathogenic 2019-08-22 criteria provided, single submitter germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000020.3(ACVRL1):c.1196G>C (p.Trp399Ser) AND Pulmonary arterial hypertension related to hereditar... ClinVar Detail
NM_000020.3(ACVRL1):c.1196G>C (p.Trp399Ser) AND Cardiovascular phenotype 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
rs121909289 dbSNP
Genome
hg19
Position
chr12:52,309,967-52,309,967
Variant Type
snv
Reference Allele
G
Alternative Allele
C
Genome browser