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NM_002316.3(LMX1B):c.353G>T (p.Cys118Phe)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Jul 1, 1998
Accession:
VCV000007003.1
Variation ID:
7003
Description:
single nucleotide variant
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NM_002316.3(LMX1B):c.353G>T (p.Cys118Phe)

Allele ID
22042
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q33.3
Genomic location
9: 126690862 (GRCh38) GRCh38 UCSC
9: 129453141 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.129453141G>T
NC_000009.12:g.126690862G>T
NM_002316.3:c.353G>T NP_002307.2:p.Cys118Phe missense
... more HGVS
Protein change
C95F
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
UniProtKB: O60663#VAR_004198
OMIM: 602575.0004
dbSNP: rs121909488
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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 Jul 1, 1998 RCV000007418.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
LMX1B Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
175 207

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jul 01, 1998)
no assertion criteria provided
Method: literature only
NAIL-PATELLA SYNDROME
Allele origin: germline
OMIM
Accession: SCV000027618.1
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome. Vollrath D Human molecular genetics 1998 PMID: 9618165

Record last updated Mar 29, 2019