Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs141164185

HADHA

rs141164185 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HADHA. Location: chromosome 2, position 26,414,196. 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
2:26414196
Cytoband
2p23.3
HGVS
NM_000182.5(HADHA):c.2215G>T (p.Ala739Ser)
Allele change
Missense_A739P

Associated conditions / phenotypes

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

Public references

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