NM_000020.3(ACVRL1):c.145G>C (p.Ala49Pro) AND Telangiectasia, hereditary hemorrhagic, type 2

Clinical significance:not provided

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000144433.1

Allele description [Variation Report for NM_000020.3(ACVRL1):c.145G>C (p.Ala49Pro)]

NM_000020.3(ACVRL1):c.145G>C (p.Ala49Pro)

Gene:
ACVRL1:activin A receptor like type 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.13
Genomic location:
Preferred name:
NM_000020.3(ACVRL1):c.145G>C (p.Ala49Pro)
HGVS:
  • NC_000012.12:g.51913182G>C
  • NG_009549.1:g.10765G>C
  • NM_000020.3:c.145G>CMANE SELECT
  • NM_001077401.2:c.145G>C
  • NP_000011.2:p.Ala49Pro
  • NP_001070869.1:p.Ala49Pro
  • LRG_543:g.10765G>C
  • NC_000012.11:g.52306966G>C
Protein change:
A49P
Links:
OMIM: 601284.0005; dbSNP: rs267606633
NCBI 1000 Genomes Browser:
rs267606633
Molecular consequence:
  • NM_000020.3:c.145G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001077401.2:c.145G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Telangiectasia, hereditary hemorrhagic, type 2 (HHT2)
Synonyms:
Telangiectasia, hereditary hemorrhagic, type II; Osler Weber Rendu syndrome type 2
Identifiers:
MONDO: MONDO:0010880; MedGen: C1838163; Orphanet: 774; OMIM: 600376

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000189488ClinVar Staff, National Center for Biotechnology Information (NCBI)no assertion providednot providednot providednot provided

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only

Details of each submission

From ClinVar Staff, National Center for Biotechnology Information (NCBI), SCV000189488.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Oct 25, 2021

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