Variant (rsID / SNP)

rs199552988

rs199552988 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GSTZ1. Location: chromosome 14, position 77,796,125. Clinical significance in the table: Affects.

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Reference-table entries

GSTZ1Other

Clinical significance (as recorded): Affects
Variant type: single nucleotide variant
Chromosome / position: 14:77796125
Cytoband: 14q24.3
HGVS: NM_145870.3(GSTZ1):c.449C>T (p.Ala150Val)
Allele change: Missense_A108V

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.