Variant (rsID / SNP)

rs74040399

rs74040399 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHSY1. Location: chromosome 15, position 101,775,373. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CHSY1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 15:101775373
Cytoband: 15q26.3
HGVS: NM_014918.5(CHSY1):c.730C>A (p.Arg244=)
Allele change: Missense_R244W

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.