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NM_001029871.4(RSPO4):c.353G>A (p.Cys118Tyr)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Nov 1, 2006
Accession:
VCV000001192.2
Variation ID:
1192
Description:
single nucleotide variant
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NM_001029871.4(RSPO4):c.353G>A (p.Cys118Tyr)

Allele ID
16231
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
20p13
Genomic location
20: 967230 (GRCh38) GRCh38 UCSC
20: 947873 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000020.10:g.947873C>T
NC_000020.11:g.967230C>T
NM_001029871.4:c.353G>A NP_001025042.2:p.Cys118Tyr missense
... more HGVS
Protein change
C118Y
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 610573.0003
dbSNP: rs74315422
UniProtKB: Q2I0M5#VAR_030402
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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 Nov 1, 2006 RCV000001251.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
RSPO4 - - GRCh38
GRCh37
9 57

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Nov 01, 2006)
no assertion criteria provided
Method: literature only
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4
Allele origin: germline
OMIM
Accession: SCV000021401.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia. Blaydon DC Nature genetics 2006 PMID: 17041604

Record last updated Oct 11, 2019