Variant (rsID / SNP)

rs201973830

rs201973830 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MLYCD. Location: chromosome 16, position 83,948,907. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MLYCDConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 16:83948907
Cytoband: 16q23.3
HGVS: NM_012213.3(MLYCD):c.1295G>A (p.Arg432His)
Allele change: Missense_R432H

Associated conditions / phenotypes

Deficiency of malonyl-CoA decarboxylase

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.