Variant (rsID / SNP)

rs6118

rs6118 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SERPINA5. Location: chromosome 14, position 95,053,863. The table records no clinical significance for this variant.

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Reference-table entries

SERPINA5Not classified

Variant type: missense_variant
Chromosome / position: 14:95053863
HGVS: NM_000624.6,c.164C>T,p.Ala55Val
Allele change: Missense_A55V

Associated conditions / phenotypes

Thrombocytopenia

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.