Variant (rsID / SNP)

rs4956145

rs4956145 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HADH. Location: chromosome 4, position 108,931,039. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

HADHBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 4:108931039
Cytoband: 4q25
HGVS: NM_005327.7(HADH):c.257T>C (p.Leu86Pro)
Allele change: Missense_L86P

Associated conditions / phenotypes

Deficiency of 3-hydroxyacyl-CoA dehydrogenase

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.