ClinGen Classification:
Classification
Uncertain Significance
Condition
RASopathy
VCEP
RASopathy VCEP
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000763 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00000575 (NFE)
Revel Score:
ENST00000426016
0.385
ENST00000402219 (MANE Select)
0.385
ENST00000543698
0.385
ENST00000395038
0.385
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38986123G>A , CM000664.2:g.38986123G>A | GRCh38 |
| NC_000002.11:g.39213264G>A , CM000664.1:g.39213264G>A | GRCh37 |
| NC_000002.10:g.39066768G>A | NCBI36 |
| NG_007530.1:g.139341C>T , LRG_754:g.139341C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685279.1:c.2470C>T | ENSP00000509424.1:p.Pro824Ser | |
| ENST00000686849.1:n.494C>T | ||
| ENST00000690876.1:c.*1009C>T | ENSP00000508955.1:n.*1009C>T | |
| ENST00000692089.1:c.3399+1350C>T | ENSP00000508626.1:n.3399+1350C>T | |
| ENST00000692227.1:c.1162-760C>T | ENSP00000509138.1:n.1162-760C>T | |
| ENST00000402219.8:c.3703C>T MANE Select | ENSP00000384675.2:p.Pro1235Ser | |
| ENST00000395038.6:c.3658C>T | ENSP00000378479.2:p.Pro1220Ser | |
| ENST00000402219.6:c.3703C>T | ENSP00000384675.2:p.Pro1235Ser | |
| ENST00000426016.5:c.3703C>T | ENSP00000387784.1:p.Pro1235Ser | |
| ENST00000469581.1:n.446C>T | ||
| NM_005633.3:c.3703C>T , LRG_754t1:c.3703C>T | NP_005624.2:p.Pro1235Ser | |
| XM_005264515.3:c.3658C>T | XP_005264572.1:p.Pro1220Ser | |
| XM_011533060.1:c.3796C>T | XP_011531362.1:p.Pro1266Ser | |
| XM_011533061.1:c.3751C>T | XP_011531363.1:p.Pro1251Ser | |
| XM_011533062.1:c.3682C>T | XP_011531364.1:p.Pro1228Ser | |
| XM_011533063.1:c.3679C>T | XP_011531365.1:p.Pro1227Ser | |
| XM_011533064.1:c.3532C>T | XP_011531366.1:p.Pro1178Ser | |
| XM_011533065.1:c.3604-760C>T | XP_011531367.1:n.3604-760C>T | |
| XM_011533066.1:c.2638C>T | XP_011531368.1:p.Pro880Ser | |
| XM_005264515.4:c.3658C>T | XP_005264572.1:p.Pro1220Ser | |
| XM_011533062.2:c.3682C>T | XP_011531364.1:p.Pro1228Ser | |
| XM_011533064.2:c.3532C>T | XP_011531366.1:p.Pro1178Ser | |
| NM_001382394.1:c.3682C>T | NP_001369323.1:p.Pro1228Ser | |
| NM_001382395.1:c.3658C>T | NP_001369324.1:p.Pro1220Ser | |
| NM_005633.4:c.3703C>T MANE Select | NP_005624.2:p.Pro1235Ser |