Variant (rsID / SNP)

rs74752435

rs74752435 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHSY1. Location: chromosome 15, position 101,718,950. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CHSY1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 15:101718950
Cytoband: 15q26.3
HGVS: NM_014918.5(CHSY1):c.1052A>G (p.Lys351Arg)
Allele change: Missense_K351R

Associated conditions / phenotypes

Temtamy preaxial brachydactyly syndrome

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.