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Variant (rsID / SNP)

rs138480247

MCCC1

rs138480247 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MCCC1. Location: chromosome 3, position 182,740,282. 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
3:182740282
Cytoband
3q27.1
HGVS
NM_020166.5(MCCC1):c.1792C>A (p.Leu598Met)
Allele change
Missense_L481M

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.