Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs200686732

LRPPRC

rs200686732 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LRPPRC. Location: chromosome 2, position 44,223,080. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

LRPPRCConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:44223080
Cytoband
2p21
HGVS
NM_133259.4(LRPPRC):c.7G>A (p.Ala3Thr)
Allele change
Missense_A3T

Associated conditions / phenotypes

Leigh syndrome|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.