ClinGen Classification:
Classification
Uncertain Significance
Condition
RASopathy
VCEP
RASopathy VCEP
ClinVar RCV:
ClinVar Variation:
COSMIC:
COSM4619534
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00045598 (NFE)
Genomes Max Group AF
0.00021793 (NFE)
Exomes Max Group AF
0.00046406 (NFE)
Revel Score:
ENST00000263879
0.208
ENST00000426016
0.333
ENST00000402219 (MANE Select)
0.333
ENST00000543698
0.333
ENST00000395038
0.333
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38995183A>T , CM000664.2:g.38995183A>T | GRCh38 |
| NC_000002.11:g.39222324A>T , CM000664.1:g.39222324A>T | GRCh37 |
| NC_000002.10:g.39075828A>T | NCBI36 |
| NG_007530.1:g.130281T>A , LRG_754:g.130281T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685279.1:c.2053T>A | ENSP00000509424.1:p.Ser685Thr | |
| ENST00000690876.1:c.*592T>A | ENSP00000508955.1:n.*592T>A | |
| ENST00000691229.1:c.3055T>A | ENSP00000510437.1:p.Ser1019Thr | |
| ENST00000692089.1:c.3175T>A | ENSP00000508626.1:p.Ser1059Thr | |
| ENST00000692227.1:c.982T>A | ENSP00000509138.1:p.Ser328Thr | |
| ENST00000692620.1:c.*873T>A | ENSP00000509311.1:n.*873T>A | |
| ENST00000402219.8:c.3286T>A MANE Select | ENSP00000384675.2:p.Ser1096Thr | |
| ENST00000395038.6:c.3286T>A | ENSP00000378479.2:p.Ser1096Thr | |
| ENST00000402219.6:c.3286T>A | ENSP00000384675.2:p.Ser1096Thr | |
| ENST00000426016.5:c.3286T>A | ENSP00000387784.1:p.Ser1096Thr | |
| NM_005633.3:c.3286T>A , LRG_754t1:c.3286T>A | NP_005624.2:p.Ser1096Thr | |
| XM_005264515.3:c.3286T>A | XP_005264572.1:p.Ser1096Thr | |
| XM_011533060.1:c.3379T>A | XP_011531362.1:p.Ser1127Thr | |
| XM_011533061.1:c.3379T>A | XP_011531363.1:p.Ser1127Thr | |
| XM_011533062.1:c.3265T>A | XP_011531364.1:p.Ser1089Thr | |
| XM_011533063.1:c.3262T>A | XP_011531365.1:p.Ser1088Thr | |
| XM_011533064.1:c.3115T>A | XP_011531366.1:p.Ser1039Thr | |
| XM_011533065.1:c.3379T>A | XP_011531367.1:p.Ser1127Thr | |
| XM_011533066.1:c.2221T>A | XP_011531368.1:p.Ser741Thr | |
| XM_005264515.4:c.3286T>A | XP_005264572.1:p.Ser1096Thr | |
| XM_011533062.2:c.3265T>A | XP_011531364.1:p.Ser1089Thr | |
| XM_011533064.2:c.3115T>A | XP_011531366.1:p.Ser1039Thr | |
| NM_001382394.1:c.3265T>A | NP_001369323.1:p.Ser1089Thr | |
| NM_001382395.1:c.3286T>A | NP_001369324.1:p.Ser1096Thr | |
| NM_005633.4:c.3286T>A MANE Select | NP_005624.2:p.Ser1096Thr |