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NM_021625.4(TRPV4):c.1445T>C (p.Met482Thr)

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Interpretation:
Uncertain significance​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Nov 28, 2018)
Accession:
VCV000590924.1
Variation ID:
590924
Description:
single nucleotide variant
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NM_021625.4(TRPV4):c.1445T>C (p.Met482Thr)

Allele ID
581868
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q24.11
Genomic location
12: 109794375 (GRCh38) GRCh38 UCSC
12: 110232180 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.110232180A>G
NC_000012.12:g.109794375A>G
NM_001177428.1:c.1304T>C NP_001170899.1:p.Met435Thr missense
... more HGVS
Protein change
M482T
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1565866454
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 no assertion criteria provided - RCV000722106.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TRPV4 - - GRCh38
GRCh37
385 397

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(-)
no assertion criteria provided
Method: clinical testing
Charcot-Marie-Tooth disease type 2C
(Autosomal dominant inheritance)
Allele origin: germline
Institute of Human Genetics,Cologne University
Accession: SCV000853270.1
Submitted: (Nov 28, 2018)
Evidence details

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Oct 11, 2019