Variant (rsID / SNP)

rs143502097

rs143502097 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRPV4. Location: chromosome 12, position 110,232,288. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

TRPV4Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:110232288
Cytoband: 12q24.11
HGVS: NM_021625.5(TRPV4):c.1337G>T (p.Arg446Leu)
Allele change: Missense_R386L

Associated conditions / phenotypes

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.