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NM_000145.3(FSHR):c.1801C>G (p.Leu601Val)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: May 19, 2013)
Accession:
VCV000056032.1
Variation ID:
56032
Description:
single nucleotide variant
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NM_000145.3(FSHR):c.1801C>G (p.Leu601Val)

Allele ID
70671
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p16.3
Genomic location
2: 48963020 (GRCh38) GRCh38 UCSC
2: 49190159 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.49190159G>C
NC_000002.12:g.48963020G>C
LRG_536t1:c.1801C>G LRG_536p1:p.Leu601Val
... more HGVS
Protein change
L575V
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs386833513
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 no assertion criteria provided - RCV000049441.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FSHR - - GRCh38
GRCh37
56 74

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
probable-pathogenic
(-)
no assertion criteria provided
Method: not provided
Ovarian dysgenesis 1
Allele origin: not provided
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)
Accession: SCV000081875.1
Submitted: (May 19, 2013)
Comment:
FinDis database variant: This variant was not found or characterized by our laboratory, data were collected from public sources: see reference
Evidence details
Comment:
Converted during submission to Likely pathogenic.

Citations for this variant

Title Author Journal Year Link
New natural inactivating mutations of the follicle-stimulating hormone receptor: correlations between receptor function and phenotype. Touraine P Molecular endocrinology (Baltimore, Md.) 1999 PMID: 10551778

Record last updated Mar 29, 2019