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Variant (rsID / SNP)

rs148758903

DICER1

rs148758903 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DICER1. Location: chromosome 14, position 95,590,785. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DICER1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
14:95590785
Cytoband
14q32.13
HGVS
NM_177438.3(DICER1):c.1124C>G (p.Pro375Arg)
Allele change
Missense_P375R

Associated conditions / phenotypes

DICER1 syndrome|Hereditary cancer-predisposing syndrome|Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors

Public references

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