Variant (rsID / SNP)

rs104894517

rs104894517 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HP. Location: chromosome 16, position 72,094,308. Clinical significance in the table: Affects.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

HPOther

Clinical significance (as recorded): Affects
Variant type: single nucleotide variant
Chromosome / position: 16:72094308
Cytoband: 16q22.2
HGVS: NM_005143.5(HP):c.740T>C (p.Ile247Thr)
Allele change: Missense_I188T

Associated conditions / phenotypes

Anhaptoglobinemia

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.