Variant (rsID / SNP)

rs144230304

rs144230304 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MCCC1. Location: chromosome 3, position 182,810,239. 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: 3:182810239
Cytoband: 3q27.1
HGVS: NM_020166.5(MCCC1):c.231G>A (p.Ala77=)
Allele change: Silent

Associated conditions / phenotypes

3-methylcrotonyl-CoA carboxylase 1 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.