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Variant (rsID / SNP)

rs146787541

DCDC2

rs146787541 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DCDC2. Location: chromosome 6, position 24,278,382. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DCDC2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:24278382
Cytoband
6p22.3
HGVS
NM_016356.5(DCDC2):c.817C>T (p.Pro273Ser)
Allele change
Missense_P273S

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 66|Isolated neonatal sclerosing cholangitis

Public references

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