chr12:51920826:C>T Detail (hg38) (ACVRL1)

Information

Genome

Assembly Position
hg19 chr12:52,314,610-52,314,610 View the variant detail on this assembly version.
hg38 chr12:51,920,826-51,920,826

HGVS

Type Transcript Protein
RefSeq NM_000020.2:c.1445C>T NP_000011.2:p.Ala482Val
NM_001077401.1:c.1487C>T NP_001070869.1:p.Ala496Val
Ensemble ENST00000388922.9:c.1445C>T ENST00000388922.9:p.Ala482Val
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Likely benign
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 tgv378813142 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely benign 2014-06-01 no assertion criteria provided Haemorrhagic telangiectasia 2 germline Detail
Likely benign 2016-04-25 criteria provided, single submitter not specified germline Detail
Likely benign 2024-03-15 reviewed by expert panel Telangiectasia, hereditary hemorrhagic, type 2 germline Detail
Benign Likely benign 2022-10-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Uncertain significance 2020-05-01 no assertion criteria provided germline Detail
Uncertain significance 2022-09-26 no assertion criteria provided germline Detail
Likely benign 2017-06-22 criteria provided, single submitter germline Detail
Likely benign 2021-02-03 criteria provided, single submitter ACVRL1-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.440 OSLER-RENDU-WEBER SYNDROME 2 Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telan... UNIPROT 15024723 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val) AND Haemorrhagic telangiectasia 2 ClinVar Detail
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val) AND not specified ClinVar Detail
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val) AND Telangiectasia, hereditary hemorrhagic, type 2 ClinVar Detail
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val) AND not provided ClinVar Detail
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val) AND multiple conditions ClinVar Detail
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val) AND Pulmonary arterial hypertension ClinVar Detail
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val) AND Cardiovascular phenotype ClinVar Detail
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val) AND ACVRL1-related disorder ClinVar Detail
Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France. 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
rs139142865 dbSNP
Genome
hg38
Position
chr12:51,920,826-51,920,826
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8620
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
120726
Allele Counts in All Race (ExAC)
202
Heterozygous Counts in All Race (ExAC)
200
Homozygous Counts in All Race (ExAC)
1
Allele Frequency in All Race (ExAC)
0.0016732104103507116
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