Variant (rsID / SNP)

rs121913132

rs121913132 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HADHB. Location: chromosome 2, position 26,486,320. 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: 2:26486320
Cytoband: 2p23.3
HGVS: NM_000183.3(HADHB):c.182G>A (p.Arg61His)
Allele change: Missense_R61H

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.