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NM_000388.3(CASR):c.1835T>C (p.Phe612Ser)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Oct 10, 1996
Accession:
VCV000008327.1
Variation ID:
8327
Description:
single nucleotide variant
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NM_000388.3(CASR):c.1835T>C (p.Phe612Ser)

Allele ID
23366
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q21.1
Genomic location
3: 122283789 (GRCh38) GRCh38 UCSC
3: 122002636 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.122002636T>C
NC_000003.12:g.122283789T>C
NM_000388.3:c.1835T>C NP_000379.2:p.Phe612Ser missense
NG_009058.1:g.105107T>C
Protein change
F612S
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 601199.0017
dbSNP: rs104893698
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Oct 10, 1996 RCV000008829.5
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CASR No evidence available No evidence available GRCh38
GRCh37
528 544

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Oct 10, 1996)
no assertion criteria provided
Method: literature only
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
Allele origin: germline
OMIM
Accession: SCV000029039.4
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor. Pearce SH The New England journal of medicine 1996 PMID: 8813042

Record last updated Jun 17, 2019