ClinGen Classification:
Classification
Uncertain Significance
Condition
RASopathy
VCEP
RASopathy VCEP
ClinVar Variation:
dbSNP:
Revel Score:
ENST00000251849 (MANE Select)
0.861
ENST00000442415
0.861
ENST00000432427
0.861
ENST00000534997
0.861
ENST00000542177
0.861
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12591708C>A , CM000665.2:g.12591708C>A | GRCh38 |
| NC_000003.11:g.12633207C>A , CM000665.1:g.12633207C>A | GRCh37 |
| NC_000003.10:g.12608207C>A | NCBI36 |
| NG_007467.1:g.77472G>T , LRG_413:g.77472G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423275.6:c.*858G>T | ENSP00000401088.1:n.*858G>T | |
| ENST00000432427.3:c.510G>T | ||
| ENST00000465826.6:n.784G>T | ||
| ENST00000475353.2:n.1115G>T | ||
| ENST00000491290.2:n.1553G>T | ||
| ENST00000494557.2:n.1004G>T | ||
| ENST00000684903.1:c.*870G>T | ENSP00000508612.1:n.*870G>T | |
| ENST00000685348.1:c.*870G>T | ENSP00000510285.1:n.*870G>T | |
| ENST00000685437.1:c.1094G>T | ENSP00000508794.1:p.Arg365Leu | |
| ENST00000685653.1:c.1193G>T | ENSP00000509968.1:p.Arg398Leu | |
| ENST00000685738.1:c.*157G>T | ENSP00000510156.1:n.*157G>T | |
| ENST00000686409.1:n.2244G>T | ||
| ENST00000686455.1:n.1556G>T | ||
| ENST00000686762.1:c.1193G>T | ENSP00000509767.1:p.Arg398Leu | |
| ENST00000687257.1:n.1429G>T | ||
| ENST00000687326.1:c.*127G>T | ENSP00000509665.1:n.*127G>T | |
| ENST00000687486.1:c.385G>T | ||
| ENST00000687505.1:n.1311G>T | ||
| ENST00000687923.1:c.1082G>T | ENSP00000510255.1:p.Arg361Leu | |
| ENST00000687940.1:n.1570G>T | ||
| ENST00000688269.1:n.1789G>T | ||
| ENST00000688326.1:c.626G>T | ||
| ENST00000688444.1:n.1519G>T | ||
| ENST00000688543.1:c.1094G>T | ENSP00000509612.1:p.Arg365Leu | |
| ENST00000688625.1:c.*771G>T | ENSP00000509522.1:n.*771G>T | |
| ENST00000688803.1:n.1424G>T | ||
| ENST00000688914.1:n.179G>T | ||
| ENST00000689097.1:c.*870G>T | ENSP00000509756.1:n.*870G>T | |
| ENST00000689389.1:c.1193G>T | ENSP00000510213.1:p.Arg398Leu | |
| ENST00000689418.1:c.*870G>T | ENSP00000509467.1:n.*870G>T | |
| ENST00000689481.1:c.*870G>T | ENSP00000510248.1:n.*870G>T | |
| ENST00000689540.1:n.1343G>T | ||
| ENST00000689876.1:c.1193G>T | ENSP00000508535.1:p.Arg398Leu | |
| ENST00000689914.1:c.*127G>T | ENSP00000509847.1:n.*127G>T | |
| ENST00000690397.1:c.1082G>T | ENSP00000508730.1:p.Arg361Leu | |
| ENST00000690460.1:c.1181G>T | ENSP00000509106.1:p.Arg394Leu | |
| ENST00000690585.1:c.85G>T | ||
| ENST00000690625.1:n.1496G>T | ||
| ENST00000691396.1:c.*1045G>T | ENSP00000510712.1:n.*1045G>T | |
| ENST00000691724.1:c.*150G>T | ENSP00000509255.1:n.*150G>T | |
| ENST00000691779.1:c.*771G>T | ENSP00000508592.1:n.*771G>T | |
| ENST00000691888.1:c.85G>T | ||
| ENST00000691899.1:c.1193G>T | ENSP00000508763.1:p.Arg398Leu | |
| ENST00000692069.1:n.1759G>T | ||
| ENST00000692093.1:c.1094G>T | ENSP00000509669.1:p.Arg365Leu | |
| ENST00000692311.1:n.2017G>T | ||
| ENST00000692558.1:n.1558G>T | ||
| ENST00000692773.1:c.*930G>T | ENSP00000509055.1:n.*930G>T | |
| ENST00000692830.1:c.*938G>T | ENSP00000509461.1:n.*938G>T | |
| ENST00000693069.1:c.*127G>T | ENSP00000510072.1:n.*127G>T | |
| ENST00000693312.1:c.968G>T | ENSP00000508686.1:p.Arg323Leu | |
| ENST00000693664.1:c.1193G>T | ENSP00000509614.1:p.Arg398Leu | |
| ENST00000693705.1:c.*870G>T | ENSP00000510697.1:n.*870G>T | |
| ENST00000251849.9:c.1193G>T MANE Select | ENSP00000251849.4:p.Arg398Leu | |
| ENST00000442415.7:c.1253G>T | ENSP00000401888.2:p.Arg418Leu | |
| ENST00000251849.8:c.1193G>T | ENSP00000251849.4:p.Arg398Leu | |
| ENST00000423275.5:c.*870G>T | ENSP00000401088.1:n.*870G>T | |
| ENST00000432427.2:c.830G>T | ENSP00000398591.2:p.Arg277Leu | |
| ENST00000442415.6:c.1253G>T | ENSP00000401888.2:p.Arg418Leu | |
| ENST00000460610.1:n.150G>T | ||
| ENST00000465826.5:n.550G>T | ||
| ENST00000475353.1:n.361G>T | ||
| ENST00000494557.1:n.209G>T | ||
| NM_002880.3:c.1193G>T , LRG_413t1:c.1193G>T | NP_002871.1:p.Arg398Leu | |
| XM_005265355.1:c.1193G>T | XP_005265412.1:p.Arg398Leu | |
| XM_005265357.1:c.1094G>T | XP_005265414.1:p.Arg365Leu | |
| XM_005265358.3:c.950G>T | XP_005265415.1:p.Arg317Leu | |
| XM_005265359.3:c.851G>T | XP_005265416.1:p.Arg284Leu | |
| XM_005265360.1:c.1193G>T | XP_005265417.1:p.Arg398Leu | |
| XM_011533974.1:c.1193G>T | XP_011532276.1:p.Arg398Leu | |
| XM_011533975.1:c.950G>T | XP_011532277.1:p.Arg317Leu | |
| NM_001354689.1:c.1253G>T | NP_001341618.1:p.Arg418Leu | |
| NM_001354690.1:c.1193G>T | NP_001341619.1:p.Arg398Leu | |
| NM_001354691.1:c.950G>T | NP_001341620.1:p.Arg317Leu | |
| NM_001354692.1:c.950G>T | NP_001341621.1:p.Arg317Leu | |
| NM_001354693.1:c.1094G>T | NP_001341622.1:p.Arg365Leu | |
| NM_001354694.1:c.1010G>T | NP_001341623.1:p.Arg337Leu | |
| NM_001354695.1:c.851G>T | NP_001341624.1:p.Arg284Leu | |
| NR_148940.1:n.1721G>T | ||
| NR_148941.1:n.1667G>T | ||
| NR_148942.1:n.1606G>T | ||
| XM_011533974.3:c.1193G>T | XP_011532276.1:p.Arg398Leu | |
| XM_017006966.1:c.1094G>T | XP_016862455.1:p.Arg365Leu | |
| XR_001740227.1:n.1484G>T | ||
| NM_001354689.3:c.1253G>T | NP_001341618.1:p.Arg418Leu | |
| NM_001354690.2:c.1193G>T | NP_001341619.1:p.Arg398Leu | |
| NM_001354691.2:c.950G>T | NP_001341620.1:p.Arg317Leu | |
| NM_001354692.2:c.950G>T | NP_001341621.1:p.Arg317Leu | |
| NM_001354693.2:c.1094G>T | NP_001341622.1:p.Arg365Leu | |
| NM_001354694.2:c.1010G>T | NP_001341623.1:p.Arg337Leu | |
| NM_001354695.2:c.851G>T | NP_001341624.1:p.Arg284Leu | |
| NR_148940.2:n.1637G>T | ||
| NR_148941.2:n.1583G>T | ||
| NR_148942.2:n.1522G>T | ||
| NM_001354690.3:c.1193G>T | NP_001341619.1:p.Arg398Leu | |
| NM_001354691.3:c.950G>T | NP_001341620.1:p.Arg317Leu | |
| NM_001354692.3:c.950G>T | NP_001341621.1:p.Arg317Leu | |
| NM_001354693.3:c.1094G>T | NP_001341622.1:p.Arg365Leu | |
| NM_001354694.3:c.1010G>T | NP_001341623.1:p.Arg337Leu | |
| NM_001354695.3:c.851G>T | NP_001341624.1:p.Arg284Leu | |
| NM_002880.4:c.1193G>T MANE Select | NP_002871.1:p.Arg398Leu | |
| NR_148940.3:n.1637G>T | ||
| NR_148941.3:n.1583G>T | ||
| NR_148942.3:n.1522G>T |