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Variant (rsID / SNP)

rs2274305

DCDC2

rs2274305 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DCDC2. Location: chromosome 6, position 24,291,203. Clinical significance in the table: Benign.

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Reference-table entries

DCDC2Benign
Clinical significance (as recorded)
Benign
Variant type
single nucleotide variant
Chromosome / position
6:24291203
Cytoband
6p22.3
HGVS
NM_016356.5(DCDC2):c.661A>G (p.Ser221Gly)
Allele change
Missense_S221G

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 66|Isolated neonatal sclerosing cholangitis|Isolated neonatal sclerosing cholangitis|Nephronophthisis 19|Autosomal recessive nonsyndromic hearing loss 66

Public references

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