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Variant (rsID / SNP)

rs1051519

HADH

rs1051519 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HADH. Location: chromosome 4, position 108,940,732. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

HADHConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
4:108940732
Cytoband
4q25
HGVS
NM_005327.7(HADH):c.456G>T (p.Gln152His)
Allele change
Missense_Q152H

Associated conditions / phenotypes

Monogenic diabetes|Deficiency of 3-hydroxyacyl-CoA dehydrogenase|Hyperinsulinemic hypoglycemia, familial, 4|Deficiency of 3-hydroxyacyl-CoA dehydrogenase|Hyperinsulinemic hypoglycemia, familial, 4

Public references

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