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Variant (rsID / SNP)

rs121918329

HIBCH

rs121918329 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HIBCH. Location: chromosome 2, position 191,155,151. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

HIBCHConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:191155151
Cytoband
2q32.2
HGVS
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys)
Allele change
Missense_Y122C

Associated conditions / phenotypes

Beta-hydroxyisobutyryl-CoA deacylase deficiency|Inborn genetic diseases

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.