Variant (rsID / SNP)

rs119103221

rs119103221 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MCCC2. Location: chromosome 5, position 70,931,003. Clinical significance in the table: Pathogenic.

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Reference-table entries

MCCC2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:70931003
Cytoband: 5q13.2
HGVS: NM_022132.5(MCCC2):c.929C>G (p.Pro310Arg)
Allele change: Missense_P310R

Associated conditions / phenotypes

3-methylcrotonyl-CoA carboxylase 2 deficiency

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.