Variant (rsID / SNP)

rs12594483

rs12594483 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDAN1. Location: chromosome 15, position 43,021,986. Clinical significance in the table: Benign.

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Reference-table entries

CDAN1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 15:43021986
Cytoband: 15q15.2
HGVS: NM_138477.4(CDAN1):c.2352+8C>T
Allele change: Silent

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.