Variant (rsID / SNP)

rs119103213

rs119103213 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MCCC1. Location: chromosome 3, position 182,759,467. Clinical significance in the table: Pathogenic.

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Reference-table entries

MCCC1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:182759467
Cytoband: 3q27.1
HGVS: NM_020166.5(MCCC1):c.1155A>C (p.Arg385Ser)
Allele change: Missense_R268S

Associated conditions / phenotypes

3-methylcrotonyl-CoA carboxylase 1 deficiency|Methylcrotonyl-CoA carboxylase 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.