Variant (rsID / SNP)

rs115250914

rs115250914 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DCLRE1C. Location: chromosome 10, position 14,951,101. 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: 10:14951101
Cytoband: 10p13
HGVS: NM_001033855.3(DCLRE1C):c.1385A>T (p.Glu462Val)
Allele change: Missense_E342V

Associated conditions / phenotypes

Severe combined immunodeficiency due to DCLRE1C deficiency|Histiocytic medullary reticulosis

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.