ClinGen Classification:
Classification
Uncertain Significance
Condition
RASopathy
VCEP
RASopathy VCEP
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00015122 (NFE)
Genomes Max Group AF
0.00035426 (AMR)
Exomes Max Group AF
0.00015425 (NFE)
Revel Score:
ENST00000262948 (MANE Select)
0.219
ENST00000394867
0.219
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4099336C>T , CM000681.2:g.4099336C>T | GRCh38 |
| NC_000019.9:g.4099334C>T , CM000681.1:g.4099334C>T | GRCh37 |
| NC_000019.8:g.4050334C>T | NCBI36 |
| NG_007996.1:g.29793G>A , LRG_750:g.29793G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.1223G>A | ||
| ENST00000687128.1:n.1223G>A | ||
| ENST00000688002.1:n.1078G>A | ||
| ENST00000689792.1:n.688G>A | ||
| ENST00000262948.10:c.784G>A MANE Select | ENSP00000262948.4:p.Val262Ile | |
| ENST00000262948.9:c.784G>A | ENSP00000262948.3:p.Val262Ile | |
| ENST00000394867.8:c.493G>A | ENSP00000378336.1:p.Val165Ile | |
| ENST00000593364.5:n.731G>A | ||
| ENST00000595715.1:n.599G>A | ||
| ENST00000597263.5:n.169+1683G>A | ||
| ENST00000599021.1:c.29+1683G>A | ||
| ENST00000600584.5:n.1344G>A | ||
| ENST00000601786.5:n.1085G>A | ||
| NM_030662.3:c.784G>A , LRG_750t1:c.784G>A | NP_109587.1:p.Val262Ile | |
| XM_006722799.2:c.705+1683G>A | XP_006722862.1:n.705+1683G>A | |
| XM_011528133.1:c.214G>A | XP_011526435.1:p.Val72Ile | |
| XM_017026989.1:c.784G>A | XP_016882478.1:p.Val262Ile | |
| XM_017026990.1:c.705+1683G>A | XP_016882479.1:n.705+1683G>A | |
| NM_030662.4:c.784G>A MANE Select | NP_109587.1:p.Val262Ile |