Variant (rsID / SNP)

rs181448047

rs181448047 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDAN1. Location: chromosome 15, position 43,022,911. Clinical significance in the table: Likely benign.

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Reference-table entries

CDAN1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 15:43022911
Cytoband: 15q15.2
HGVS: NM_138477.4(CDAN1):c.2059C>T (p.Arg687Cys)
Allele change: Missense_R687C

Associated conditions / phenotypes

Congenital dyserythropoietic anemia, type I|Anemia, congenital dyserythropoietic, type 1a

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.