Variant (rsID / SNP)

rs199727887

rs199727887 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LRPPRC. Location: chromosome 2, position 44,204,298. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

LRPPRCUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 2:44204298
Cytoband: 2p21
HGVS: NM_133259.4(LRPPRC):c.587A>C (p.Asn196Thr)
Allele change: Missense_N196T

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.