ClinGen Evidence Repository:
Classification
Uncertain Significance
Condition
RASopathy
VCEP
RASopathy VCEP
Revel Score:
ENST00000215739
0.093
ENST00000389355
0.093
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00028257 (SAS)
Genomes Max Group AF
0.00028182 (SAS)
Exomes Max Group AF
0.00025696 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20982397G>C , CM000684.2:g.20982397G>C | GRCh38 |
| NC_000022.10:g.21336686G>C , CM000684.1:g.21336686G>C | GRCh37 |
| NC_000022.9:g.19666686G>C | NCBI36 |
| NG_034193.1:g.5129G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700578.1:c.26G>C | ENSP00000515073.1:p.Gly9Ala | |
| ENST00000493460.2:n.101G>C | ||
| ENST00000645935.1:c.26G>C | ENSP00000493479.1:p.Gly9Ala | |
| ENST00000646124.2:c.26G>C MANE Select | ENSP00000496779.1:p.Gly9Ala | |
| ENST00000215739.12:c.26G>C | ENSP00000215739.8:p.Gly9Ala | |
| ENST00000414985.5:c.26G>C | ENSP00000397247.1:p.Gly9Ala | |
| ENST00000443265.5:c.26G>C | ENSP00000406466.1:p.Gly9Ala | |
| ENST00000479606.5:n.347-630G>C | ||
| ENST00000493460.1:n.101G>C | ||
| NM_006767.3:c.26G>C | NP_006758.2:p.Gly9Ala | |
| NM_006767.4:c.26G>C MANE Select | NP_006758.2:p.Gly9Ala |