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Variant (rsID / SNP)

rs121908156

DCLRE1C

rs121908156 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DCLRE1C. Location: chromosome 10, position 14,987,109. 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
10:14987109
Cytoband
10p13
HGVS
NM_001033855.3(DCLRE1C):c.241C>T (p.Arg81Ter)
Allele change
Silent

Associated conditions / phenotypes

Severe combined immunodeficiency due to DCLRE1C deficiency|Severe combined immunodeficiency due to DCLRE1C deficiency|Histiocytic medullary reticulosis|Histiocytic medullary reticulosis

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.