Variant (rsID / SNP)

rs1058180

rs1058180 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HIBCH. Location: chromosome 2, position 191,161,622. Clinical significance in the table: Benign.

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Reference-table entries

HIBCHBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:191161622
Cytoband: 2q32.2
HGVS: NM_014362.4(HIBCH):c.136A>G (p.Thr46Ala)
Allele change: Missense_T46A

Associated conditions / phenotypes

Beta-hydroxyisobutyryl-CoA deacylase 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.