LRPPRC
From SNPedia
is a | gene |
is | mentioned by |
Full name | leucine rich pentatricopeptide repeat containing |
EntrezGene | 10128 |
PheGenI | 10128 |
VariationViewer | 10128 |
ClinVar | LRPPRC |
GeneCards | LRPPRC |
dbSNP | 10128 |
Diseases | LRPPRC |
SADR | 10128 |
HugeNav | 10128 |
wikipedia | LRPPRC |
LRPPRC | |
gopubmed | LRPPRC |
EVS | LRPPRC |
HEFalMp | LRPPRC |
MyGene2 | LRPPRC |
23andMe | LRPPRC |
UniProt | P42704 |
Ensembl | ENSG00000138095 |
OMIM | 607544 |
# SNPs | 24 |
Max Magnitude | Chromosome position | Summary | |
---|---|---|---|
i5012749 | |||
rs1060499785 | 0 | 43,979,825 | |
rs119466000 | 5 | 43,974,244 | |
rs13387221 | 0 | 43,908,175 | |
rs190007694 | 0 | 43,946,109 | |
rs199706677 | 0 | 43,918,330 | |
rs199727887 | 0 | 43,977,159 | |
rs200686732 | 0 | 43,995,941 | |
rs747400412 | 0 | 43,943,793 | |
rs765911841 | 0 | 43,976,185 | |
rs769022521 | 0 | 43,918,025 | |
rs774857058 | 0 | 43,918,329 | |
rs786205523 | 0 | 43,948,462 | |
rs797044605 | 0 | 43,905,770 | |
rs863224052 | 0 | 43,894,567 | |
rs863224053 | 0 | 43,975,089 | |
rs863224055 | 0 | 43,948,121 | |
rs863224057 | 0 | 43,943,768 | |
rs863224058 | 0 | 43,899,235 | |
rs863224059 | 0 | 43,957,384 | |
rs863225443 | 0 | 43,896,633 | |
rs863225444 | 0 | 43,934,786 | |
rs863225445 | 0 | 43,934,198 | |
rs863225446 | 0 | 43,960,534 |
LRPPRC codes for leucine-rich PPR motif-containing protein, which is involved in energy generation.
Variant in i5012749 can cause Leigh Syndrome, French Canadian Type. Included in new 23andMe reports.