Variant (rsID / SNP)

rs200497189

rs200497189 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRPV4. Location: chromosome 12, position 110,240,892. Clinical significance in the table: Uncertain significance.

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Reference-table entries

TRPV4Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 12:110240892
Cytoband: 12q24.11
HGVS: NM_021625.5(TRPV4):c.616C>T (p.Arg206Cys)
Allele change: Missense_R206C

Associated conditions / phenotypes

Inborn genetic diseases|Charcot-Marie-Tooth disease axonal type 2C

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.