NM_000316.2(PTH1R):c.395C>T (p.Pro132Leu)

Variation ID: Help
13745
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Sep 1, 1998
Number of submission(s):
1
Condition(s):
Chondrodysplasia Blomstrand type[MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_000316.2(PTH1R):c.395C>T (p.Pro132Leu)

Allele ID:
28784
Variant type:
single nucleotide variant
Cytogenetic location:
3p21.3
Genomic location:
  • Chr3: 46897936 (on Assembly GRCh38)
  • Chr3: 46939426 (on Assembly GRCh37)
Protein change:
P132L
HGVS:
  • NG_008864.1:g.25191C>T
  • NM_000316.2:c.395C>T
  • NP_000307.1:p.Pro132Leu
  • NC_000003.12:g.46897936C>T (GRCh38)
  • NC_000003.11:g.46939426C>T (GRCh37)
  • Q03431:p.Pro132Leu
Links:
NCBI 1000 Genomes Browser:
rs121434599
Molecular consequence:
NM_000316.2:c.395C>T: missense variant [Sequence Ontology SO:0001583]

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Sep 1, 1998)
no assertion criteria providedliterature onlygermlineOMIMSCV000035007.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Sep 6, 2017