Variant (rsID / SNP)

rs747766605

rs747766605 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LRPPRC. Location: chromosome 2, position 44,201,046. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

LRPPRCConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: Duplication
Chromosome / position: 2:44201046
Cytoband: 2p21
HGVS: NM_133259.4(LRPPRC):c.1156-13dup

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.