NM_000388.3(CASR):c.539T>G (p.Phe180Cys)

Variation ID: Help
8355
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Jul 1, 2007
Number of submission(s):
1
Condition(s):
Hypocalciuric hypercalcemia, familial, type 1[MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_000388.3(CASR):c.539T>G (p.Phe180Cys)

Allele ID:
23394
Variant type:
single nucleotide variant
Cytogenetic location:
3q21
Genomic location:
  • Chr3: 122261574 (on Assembly GRCh38)
  • Chr3: 121980421 (on Assembly GRCh37)
Protein change:
F180C
HGVS:
  • NG_009058.1:g.82892T>G
  • NM_000388.3:c.539T>G
  • NP_000379.2:p.Phe180Cys
  • NC_000003.12:g.122261574T>G (GRCh38)
  • NC_000003.11:g.121980421T>G (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs121909268
Molecular consequence:
NM_000388.3:c.539T>G: 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
(Jul 1, 2007)
no assertion criteria providedliterature onlygermlineOMIMSCV000029070.3
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Sep 6, 2017