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NM_001077401.2(ACVRL1):c.145G>C (p.Ala49Pro)

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Interpretation:
not provided​

Review status:
no assertion provided
Submissions:
1 (Most recent: Jan 2, 2013)
Accession:
VCV000156349.1
Variation ID:
156349
Description:
single nucleotide variant
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NM_001077401.2(ACVRL1):c.145G>C (p.Ala49Pro)

Allele ID
166129
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q13.13
Genomic location
12: 51913182 (GRCh38) GRCh38 UCSC
12: 52306966 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NP_000011.2:p.Ala49Pro
NC_000012.11:g.52306966G>C
NC_000012.12:g.51913182G>C
... more HGVS
Protein change
A49P
Other names
-
Canonical SPDI
NC_000012.12:51913181:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA270762
OMIM: 601284.0005
dbSNP: rs267606633
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
not provided 1 no assertion provided - RCV000144433.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ACVRL1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
573 584

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
not provided
(-)
no assertion provided
Method: not provided
Hereditary hemorrhagic telangiectasia type 2
Allele origin: not provided
ClinVar Staff, National Center for Biotechnology Information (NCBI)
Accession: SCV000189488.1
Submitted: (Jan 02, 2013)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs267606633...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 08, 2021