Variant (rsID / SNP)

rs863224229

rs863224229 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SURF1. Location: chromosome 9, position 136,223,317. Clinical significance in the table: Pathogenic.

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Reference-table entries

SURF1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 9:136223317
Cytoband: 9q34.2
HGVS: NM_003172.4(SURF1):c.-11_13del (p.Met1_Ala5del)

Associated conditions / phenotypes

Leigh syndrome

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.