ClinGen Evidence Repository:
Classification
Uncertain Significance
Condition
RASopathy
VCEP
RASopathy VCEP
Revel Score:
ENST00000262948 (MANE Select)
0.803
ENST00000394867
0.803
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002808 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00002809 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4101032C>T , CM000681.2:g.4101032C>T | GRCh38 |
| NC_000019.9:g.4101030C>T , CM000681.1:g.4101030C>T | GRCh37 |
| NC_000019.8:g.4052030C>T | NCBI36 |
| NG_007996.1:g.28097G>A , LRG_750:g.28097G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.1131G>A | ||
| ENST00000687128.1:n.1131G>A | ||
| ENST00000689792.1:n.632G>A | ||
| ENST00000262948.10:c.692G>A MANE Select | ENSP00000262948.4:p.Arg231His | |
| ENST00000262948.9:c.692G>A | ENSP00000262948.3:p.Arg231His | |
| ENST00000394867.8:c.401G>A | ENSP00000378336.1:p.Arg134His | |
| ENST00000593364.5:n.639G>A | ||
| ENST00000597008.5:n.293G>A | ||
| ENST00000597263.5:n.156G>A | ||
| ENST00000599021.1:c.16G>A | ||
| ENST00000601786.5:n.993G>A | ||
| ENST00000602167.5:n.412G>A | ||
| NM_030662.3:c.692G>A , LRG_750t1:c.692G>A | NP_109587.1:p.Arg231His | |
| XM_006722799.2:c.692G>A | XP_006722862.1:p.Arg231His | |
| XM_011528133.1:c.122G>A | XP_011526435.1:p.Arg41His | |
| XM_017026989.1:c.692G>A | XP_016882478.1:p.Arg231His | |
| XM_017026990.1:c.692G>A | XP_016882479.1:p.Arg231His | |
| XM_017026991.1:c.692G>A | XP_016882480.1:p.Arg231His | |
| NM_030662.4:c.692G>A MANE Select | NP_109587.1:p.Arg231His |