Variant (rsID / SNP)

rs119466000

rs119466000 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LRPPRC. Location: chromosome 2, position 44,201,383. Clinical significance in the table: Pathogenic.

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Reference-table entries

LRPPRCPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:44201383
Cytoband: 2p21
HGVS: NM_133259.4(LRPPRC):c.1061C>T (p.Ala354Val)
Allele change: Missense_A354V

Associated conditions / phenotypes

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

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.