Variant (rsID / SNP)

rs140540096

rs140540096 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GSTZ1. Location: chromosome 14, position 77,794,333. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

GSTZ1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 14:77794333
Cytoband: 14q24.3
HGVS: NM_145870.3(GSTZ1):c.295G>A (p.Val99Met)
Allele change: Silent

Associated conditions / phenotypes

Maleylacetoacetate isomerase deficiency

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.