Variant (rsID / SNP)

rs367863044

rs367863044 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALDH6A1. Location: chromosome 14, position 74,527,350. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ALDH6A1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 14:74527350
Cytoband: 14q24.3
HGVS: NM_005589.4(ALDH6A1):c.1603C>T (p.Arg535Cys)
Allele change: Silent

Associated conditions / phenotypes

Methylmalonate semialdehyde dehydrogenase 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.