Variant (rsID / SNP)

rs113374262

rs113374262 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LRPPRC. Location: chromosome 2, position 44,145,400. Clinical significance in the table: Likely benign.

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Reference-table entries

LRPPRCLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:44145400
Cytoband: 2p21
HGVS: NM_133259.4(LRPPRC):c.3034C>T (p.Pro1012Ser)
Allele change: Missense_P1012S

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.