Variant (rsID / SNP)

rs104894025

rs104894025 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NT5C3A. Location: chromosome 7, position 33,060,929. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

NT5C3APathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:33060929
Cytoband: 7p14.3
HGVS: NM_001002010.5(NT5C3A):c.395A>T (p.Asp132Val)
Allele change: Missense_D98V

Associated conditions / phenotypes

Hemolytic anemia due to pyrimidine 5' nucleotidase 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.