Variant (rsID / SNP)

rs61749163

rs61749163 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DCLRE1C. Location: chromosome 10, position 14,950,485. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

DCLRE1CBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 10:14950485
Cytoband: 10p13
HGVS: NM_001033855.3(DCLRE1C):c.2001A>G (p.Leu667=)
Allele change: Silent

Associated conditions / phenotypes

Histiocytic medullary reticulosis|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.