Variant (rsID / SNP)

rs121918133

rs121918133 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BCAM. Location: chromosome 19, position 45,315,576. Clinical significance in the table: Pathogenic.

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Reference-table entries

BCAMPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:45315576
Cytoband: 19q13.32
HGVS: NM_005581.5(BCAM):c.361C>T (p.Arg121Ter)
Allele change: Nonsense_R121X

Associated conditions / phenotypes

BLOOD GROUP--LUTHERAN NULL

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.