Variant (rsID / SNP)

rs8176058

rs8176058 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KEL. Location: chromosome 7, position 142,655,008. Clinical significance in the table: Benign.

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Reference-table entries

KELBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 7:142655008
Cytoband: 7q34
HGVS: NM_000420.3(KEL):c.578C>T (p.Thr193Met)
Allele change: Missense_T193M

Associated conditions / phenotypes

KELL K/k BLOOD GROUP POLYMORPHISM

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.