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Variant (rsID / SNP)

rs41297018

DCLRE1C

rs41297018 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DCLRE1C. Location: chromosome 10, position 14,977,469. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DCLRE1CConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
10:14977469
Cytoband
10p13
HGVS
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg)
Allele change
Missense_G33R

Associated conditions / phenotypes

Severe combined immunodeficiency due to DCLRE1C deficiency|Histiocytic medullary reticulosis

Public references

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