Variant (rsID / SNP)

rs2438652

rs2438652 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATPSCKMT. Location: chromosome 5, position 10,239,261. The table records no clinical significance for this variant.

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Reference-table entries

ATPSCKMTNot classified

Variant type: missense_variant
Chromosome / position: 5:10239261
HGVS: NM_199133.4,c.224C>T,p.Thr75Met
Allele change: Missense_T75M

Associated conditions / phenotypes

Silent

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.