Variant (rsID / SNP)

rs200595563

rs200595563 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DCDC2. Location: chromosome 6, position 24,302,055. Clinical significance in the table: Uncertain significance.

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Reference-table entries

DCDC2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 6:24302055
Cytoband: 6p22.3
HGVS: NM_016356.5(DCDC2):c.445C>T (p.Leu149Phe)
Allele change: Missense_L149F

Associated conditions / phenotypes

Isolated neonatal sclerosing cholangitis|Autosomal recessive nonsyndromic hearing loss 66

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.