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Variant (rsID / SNP)

rs144732922

LRPPRC

rs144732922 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LRPPRC. Location: chromosome 2, position 44,200,820. 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
2:44200820
Cytoband
2p21
HGVS
NM_133259.4(LRPPRC):c.1295A>G (p.Glu432Gly)
Allele change
Missense_E432G

Associated conditions / phenotypes

Intellectual disability|Seizure|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.