Variant (rsID / SNP)

rs117225135

rs117225135 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DHTKD1. Location: chromosome 10, position 12,154,929. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DHTKD1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 10:12154929
Cytoband: 10p14
HGVS: NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg)
Allele change: Missense_G729R

Associated conditions / phenotypes

2-aminoadipic 2-oxoadipic aciduria

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.