Variant (rsID / SNP)
rs3742037
rs3742037 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRPV4. Location: chromosome 12, position 110,226,379. Clinical significance in the table: Benign.
Reference-table entries
TRPV4Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:110226379
- Cytoband
- 12q24.11
- HGVS
- NM_021625.5(TRPV4):c.2034C>T (p.Ile678=)
- Allele change
- Synonymous_I618I
Associated conditions / phenotypes
Spondylometaphyseal dysplasia, Kozlowski type|Brachyrachia (short spine dysplasia)|Scapuloperoneal spinal muscular atrophy|Autosomal dominant congenital benign spinal muscular atrophy|Metatropic dysplasia|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.