Variant (rsID / SNP)

rs2336573

rs2336573 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CD320. Location: chromosome 19, position 8,367,709. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CD320Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 19:8367709
Cytoband: 19p13.2
HGVS: NM_016579.4(CD320):c.658G>A (p.Gly220Arg)
Allele change: Missense_G220R

Associated conditions / phenotypes

Methylmalonic acidemia due to transcobalamin receptor defect

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.