Variant (rsID / SNP)

rs786204607

rs786204607 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HADHA. Location: chromosome 2, position 26,438,018. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

HADHALikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:26438018
Cytoband: 2p23.3
HGVS: NM_000182.5(HADHA):c.703C>T (p.Arg235Trp)
Allele change: Missense_R235W

Associated conditions / phenotypes

Long chain 3-hydroxyacyl-CoA dehydrogenase 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.