Variant (rsID / SNP)

rs72851542

rs72851542 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HADHB. Location: chromosome 2, position 26,508,421. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

HADHBBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:26508421
Cytoband: 2p23.3
HGVS: NM_000183.3(HADHB):c.1371G>A (p.Ala457=)
Allele change: Synonymous_A457A

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.