Variant (rsID / SNP)

rs150384171

rs150384171 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CD320. Location: chromosome 19, position 8,369,919. Clinical significance in the table: Conflicting interpretations of pathogenicity; other.

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Reference-table entries

CD320Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity; other
Variant type: Microsatellite
Chromosome / position: 19:8369919
Cytoband: 19p13.2
HGVS: NM_016579.4(CD320):c.256GAG[2] (p.Glu88del)

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.