Variant (rsID / SNP)

rs121908157

rs121908157 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DCLRE1C. Location: chromosome 10, position 14,976,460. Clinical significance in the table: Pathogenic.

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Reference-table entries

DCLRE1CPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 10:14976460
Cytoband: 10p13
HGVS: NM_001033855.3(DCLRE1C):c.597C>A (p.Tyr199Ter)
Allele change: Nonsense_Y79X

Associated conditions / phenotypes

Severe combined immunodeficiency, athabascan-type|Severe combined immunodeficiency due to DCLRE1C 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.