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Variant (rsID / SNP)

rs120074167

CDAN1

rs120074167 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDAN1. Location: chromosome 15, position 43,022,955. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

CDAN1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
15:43022955
Cytoband
15q15.2
HGVS
NM_138477.2(CDAN1):c.2015C>T (p.Pro672Leu)
Allele change
Missense_P672L

Associated conditions / phenotypes

Congenital dyserythropoietic anemia, type I

Public references

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