chr12:51916180:T>A Detail (hg38) (ACVRL1)

Information

Genome

Assembly Position
hg19 chr12:52,309,964-52,309,964 View the variant detail on this assembly version.
hg38 chr12:51,916,180-51,916,180

HGVS

Type Transcript Protein
RefSeq NM_000020.2:c.1193T>A NP_000011.2:p.Ile398Asn
NM_001077401.1:c.1235T>A NP_001070869.1:p.Ile412Asn
Ensemble ENST00000388922.9:c.1193T>A ENST00000388922.9:p.Ile398Asn
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance 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 2001-02-01 no assertion criteria provided Telangiectasia, hereditary hemorrhagic, type 2 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.440 OSLER-RENDU-WEBER SYNDROME 2 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000020.3(ACVRL1):c.1193T>A (p.Ile398Asn) AND Telangiectasia, hereditary hemorrhagic, type 2 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
rs121909286 dbSNP
Genome
hg38
Position
chr12:51,916,180-51,916,180
Variant Type
snv
Reference Allele
T
Alternative Allele
A
Genome browser