Variant (rsID / SNP)
rs188424940
rs188424940 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LRPPRC. Location: chromosome 2, position 44,223,097. Clinical significance in the table: Benign.
Reference-table entries
LRPPRCBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:44223097
- Cytoband
- 2p21
- HGVS
- NM_133259.4(LRPPRC):c.-11A>G
- Allele change
- Silent
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.