Gene entry
TMEM70
transmembrane protein 70
- Chromosome
- 8
- Cytoband
- 8q21.11
- Variants (rsID)
- 5
TMEM70 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 8 (region 8q21.11). Its official name is “transmembrane protein 70”. The reference table lists 5 variants (rsID) for this gene.
Clinically classified variants
5 reference-table entries with clinical significance.
- rs1053079Benignsingle nucleotide variantMitochondrial complex V (ATP synthase) deficiency nuclear type 2
- rs113669789Benignsingle nucleotide variantMitochondrial complex V (ATP synthase) deficiency nuclear type 2
- rs77410280Benignsingle nucleotide variantMitochondrial complex V (ATP synthase) deficiency nuclear type 2
- rs200820631Conflicting interpretationssingle nucleotide variantMitochondrial complex V (ATP synthase) deficiency nuclear type 2
- rs183973249Pathogenicsingle nucleotide variantMitochondrial complex V (ATP synthase) deficiency nuclear type 2
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.
