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Variant (rsID / SNP)

rs121912633

TRPV4

rs121912633 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRPV4. Location: chromosome 12, position 110,230,201. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

TRPV4Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
12:110230201
Cytoband
12q24.11
HGVS
NM_021625.5(TRPV4):c.1858G>A (p.Val620Ile)
Allele change
Missense_V560I

Associated conditions / phenotypes

Brachyrachia (short spine dysplasia)|Skeletal dysplasia|Skeletal dysplasia|Neuromuscular disease|Charcot-Marie-Tooth disease axonal type 2C|Charcot-Marie-Tooth disease

Public references

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