ClinGen Evidence Repository:
Classification
Uncertain Significance
Condition
RASopathy
VCEP
RASopathy VCEP
Revel Score:
ENST00000262948 (MANE Select)
0.341
ENST00000394867
0.341
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003259 (NFE)
Genomes Max Group AF
0.00002846 (NFE)
Exomes Max Group AF
0.00003079 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4090689C>T , CM000681.2:g.4090689C>T | GRCh38 |
| NC_000019.9:g.4090687C>T , CM000681.1:g.4090687C>T | GRCh37 |
| NC_000019.8:g.4041687C>T | NCBI36 |
| NG_007996.1:g.38440G>A , LRG_750:g.38440G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.1551G>A | ||
| ENST00000688002.1:n.3263G>A | ||
| ENST00000688751.1:n.248G>A | ||
| ENST00000689792.1:n.1016G>A | ||
| ENST00000262948.10:c.1112G>A MANE Select | ENSP00000262948.4:p.Arg371Gln | |
| ENST00000262948.9:c.1112G>A | ENSP00000262948.3:p.Arg371Gln | |
| ENST00000394867.8:c.821G>A | ENSP00000378336.1:p.Arg274Gln | |
| ENST00000597263.5:n.297G>A | ||
| ENST00000599021.1:c.222G>A | ||
| ENST00000600584.5:n.2561G>A | ||
| ENST00000601786.5:n.1413G>A | ||
| NM_030662.3:c.1112G>A , LRG_750t1:c.1112G>A | NP_109587.1:p.Arg371Gln | |
| XM_006722799.2:c.833G>A | XP_006722862.1:p.Arg278Gln | |
| XM_011528133.1:c.542G>A | XP_011526435.1:p.Arg181Gln | |
| NM_030662.4:c.1112G>A MANE Select | NP_109587.1:p.Arg371Gln |