Variant (rsID / SNP)

rs41298896

rs41298896 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DCLRE1C. Location: chromosome 10, position 14,968,855. Clinical significance in the table: Benign.

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Reference-table entries

DCLRE1CBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 10:14968855
Cytoband: 10p13
HGVS: NM_001033855.3(DCLRE1C):c.959C>G (p.Ser320Cys)
Allele change: Missense_S200C

Associated conditions / phenotypes

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

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.