Variant (rsID / SNP)

rs34749281

rs34749281 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MCCC1. Location: chromosome 3, position 182,751,846. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

MCCC1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 3:182751846
Cytoband: 3q27.1
HGVS: NM_020166.5(MCCC1):c.1614G>A (p.Ser538=)
Allele change: Synonymous_S421S

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.