TTC29
From SNPedia
is a | gene |
is | mentioned by |
ClinVar | TTC29 |
GeneCards | TTC29 |
Diseases | TTC29 |
wikipedia | TTC29 |
TTC29 | |
gopubmed | TTC29 |
EVS | TTC29 |
HEFalMp | TTC29 |
MyGene2 | TTC29 |
23andMe | TTC29 |
# SNPs | 1 |
Max Magnitude | Chromosome position | Summary | |
---|---|---|---|
rs1995809 | 0 | 146,923,272 |
Several recessively inherited (rare) mutations in the TTC29 gene have been reported to lead to MMAF and thereby male infertility, including:[PMID 31735292],[PMID 31735292]
- c.176+1G>A; rs76715876
- c.330_334delGGAGG; rs766352190
- c.412_425delGATGTATATAATAA; GRCh37 Chr4:147824857_147824870 (no rsID)
- c.750C>A; rs763399136
- c.977+1G>T; GRCh37 Chr4:147754955 (no rsID)
- c.1107C>G (p.Tyr369*); rs1489738488