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Variant (rsID / SNP)

rs267607144

TRPV4

rs267607144 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRPV4. Location: chromosome 12, position 110,238,470. 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
12:110238470
Cytoband
12q24.11
HGVS
NM_021625.5(TRPV4):c.806G>A (p.Arg269His)
Allele change
Missense_R269H

Associated conditions / phenotypes

Autosomal dominant congenital benign spinal muscular atrophy|Charcot-Marie-Tooth disease axonal type 2C|Charcot-Marie-Tooth disease|Neuromuscular disease|Inborn genetic diseases|11 conditions

Public references

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