Variant (rsID / SNP)

rs80338694

rs80338694 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDAN1. Location: chromosome 15, position 43,028,913. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

CDAN1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:43028913
Cytoband: 15q15.2
HGVS: NM_138477.4(CDAN1):c.156C>G (p.Phe52Leu)
Allele change: Missense_F52L

Associated conditions / phenotypes

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.