Variant (rsID / SNP)

rs76457230

rs76457230 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHSY1. Location: chromosome 15, position 101,718,529. Clinical significance in the table: Benign.

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Reference-table entries

CHSY1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 15:101718529
Cytoband: 15q26.3
HGVS: NM_014918.5(CHSY1):c.1473A>G (p.Gln491=)
Allele change: Synonymous_Q491Q

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.