Table 2 Information on the missense mutation in the GREB1L gene
Gene | GREB1L | |
|---|---|---|
cDNA mutation | NM_001142966: c.4507C>T | |
Variant allele frequency | ExAC Browser | 0 |
GnomAD | 0 | |
1000 Genomes Project | 0 | |
In-house Chinese-Control | 0 | |
Amino acid sequence conservation | PhyloP | 4.085 |
PhastCons | 1 | |
Function prediction | SIFT | Deleterious |
PolyPhen-2 | Probably damaging | |
M-CAP | Possibly pathogenic |