Variant (rsID / SNP)

rs2232775

rs2232775 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CD320, NDUFA7. Location: chromosome 19, position 8,373,152. Clinical significance in the table: Benign.

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Reference-table entries

CD320Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 19:8373152
Cytoband: 19p13.2
HGVS: NM_016579.4(CD320):c.23A>G (p.Gln8Arg)
Allele change: Missense_Q8R

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.