Variant ID | 6-127266770-T-G |
Genome Position | chr6:127266770 |
ClinVar | . |
SmProt ID | Length | Start Codon | Strand | Blocks | Consequence |
---|---|---|---|---|---|
SPROHSA161242 | 54 | ATG | + | 127266678-127266843 | Stop Gain p.L31* |
Source | Allele Count | Allele Frequency |
---|---|---|
gnomAD3 | 104827 | 0.73435 |
1KGP3 | 3573 | 0.71346 |
TOPMed | 92585 | 0.73733 |
GAsP | 2410 | 0.692 |
NyuWa | 4450 | 0.74216 |
Ribosome profiling | . |
Variant Type | uSTOP_lost |
Gene | RNF146 |
Context | AGTTAGC |
Kozak Sequence | . |
Kozak Strength | Moderate |
Effect | uORF_elongated |
Distance to CDS | . |
Distance to Alt Stop | 165 |