Variant (rsID / SNP)

rs3784678

rs3784678 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDIN1. Location: chromosome 15, position 36,946,303. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CDIN1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 15:36946303
Cytoband: 15q14
HGVS: NM_001321759.2(CDIN1):c.217C>G (p.Leu73Val)
Allele change: Missense_L73V

Associated conditions / phenotypes

Congenital dyserythropoietic anemia type type 1B

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.