Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs146406360

HADHA

rs146406360 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HADHA. Location: chromosome 2, position 26,414,385. Clinical significance in the table: Uncertain significance.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

HADHAUncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
2:26414385
Cytoband
2p23.3
HGVS
NM_000182.5(HADHA):c.2113G>A (p.Val705Ile)
Allele change
Missense_V705I

Associated conditions / phenotypes

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency|Mitochondrial trifunctional protein deficiency|Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency|Mitochondrial trifunctional protein deficiency

Public references

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