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Variant (rsID / SNP)

rs41299658

DCLRE1C

rs41299658 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DCLRE1C. Location: chromosome 10, position 14,965,056. Clinical significance in the table: Uncertain significance.

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Reference-table entries

DCLRE1CUncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
10:14965056
Cytoband
10p13
HGVS
NM_001033855.3(DCLRE1C):c.985T>A (p.Leu329Met)
Allele change
Missense_L209M

Associated conditions / phenotypes

Histiocytic medullary reticulosis|Severe combined immunodeficiency due to DCLRE1C deficiency|Severe combined immunodeficiency, athabascan-type

Public references

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