Variant (rsID / SNP)

rs72619327

rs72619327 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SURF1. Location: chromosome 9, position 136,219,448. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SURF1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 9:136219448
Cytoband: 9q34.2
HGVS: NM_003172.4(SURF1):c.604G>C (p.Asp202His)
Allele change: Missense_D93H

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.