Variant (rsID / SNP)

rs141456457

rs141456457 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GCDH. Location: chromosome 19, position 13,004,390. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

GCDHConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 19:13004390
Cytoband: 19p13.13
HGVS: NM_000159.4(GCDH):c.428T>C (p.Val143Ala)
Allele change: Silent

Associated conditions / phenotypes

Glutaric aciduria, type 1

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.