Variant (rsID / SNP)

rs121913133

rs121913133 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HADHB. Location: chromosome 2, position 26,502,112. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

HADHBLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:26502112
Cytoband: 2p23.3
HGVS: NM_000183.3(HADHB):c.740G>A (p.Arg247His)
Allele change: Missense_R247H

Associated conditions / phenotypes

Mitochondrial trifunctional protein 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.