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Variant (rsID / SNP)

rs199517715

MCCC1

rs199517715 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MCCC1. Location: chromosome 3, position 182,810,333. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MCCC1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:182810333
Cytoband
3q27.1
HGVS
NM_020166.5(MCCC1):c.137G>A (p.Gly46Glu)
Allele change
Silent

Associated conditions / phenotypes

3-methylcrotonyl-CoA carboxylase 1 deficiency

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.