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Variant (rsID / SNP)

rs116727742

LRPPRC

rs116727742 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LRPPRC. Location: chromosome 2, position 44,223,008. 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
single nucleotide variant
Chromosome / position
2:44223008
Cytoband
2p21
HGVS
NM_133259.4(LRPPRC):c.79C>T (p.Leu27Phe)
Allele change
Missense_L27F

Associated conditions / phenotypes

Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.