SVSaudiVarKBSaudi Variant Knowledge Base
Research release · QC validated
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Variant profile

p.Pro107Arg

p.Pro107Arg · SaudiVarKB evidence summary derived from retained literature mentions.

1Variant mentions
1Publications
2Associated gene records
1Associated phenotype records

Associated gene records

Co-mentioned in the same publications
GeneIdentifier / contextArticlesMentions
C2orf69HGNC:2679911
GBE1HGNC:418011

Associated phenotype records

Co-mentioned in the same publications
PhenotypeIdentifier / contextArticlesMentions
epilepsyHP:000125011

Associated population records

Co-mentioned in the same publications

No retained population associations.

Supporting publications

1 records
  1. 2025Homozygous missense variant in C2orf69 causes early-onset neurodegeneration, leukoencephalopathy and autoinflammation.Journal of medical geneticsPubMed ↗
Data & methodsCitation & contactSystem status
Developed by Dr Babajan Banaganapalli. For full data access, contact bioinfo.bb@gmail.com.
SaudiVarKB is a research resource and is not intended for clinical diagnosis or treatment decisions.