ClinGen Evidence Repository:
Classification
Likely Pathogenic
Condition
RASopathy
VCEP
RASopathy VCEP
Revel Score:
ENST00000216373 (MANE Select)
0.802
ENST00000543680
0.802
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50182521A>T , CM000676.2:g.50182521A>T | GRCh38 |
| NC_000014.8:g.50649239A>T , CM000676.1:g.50649239A>T | GRCh37 |
| NC_000014.7:g.49718989A>T | NCBI36 |
| NG_051073.1:g.54173T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216373.10:c.800T>A MANE Select | ENSP00000216373.5:p.Met267Lys | |
| ENST00000216373.9:c.800T>A | ENSP00000216373.5:p.Met267Lys | |
| ENST00000543680.5:c.800T>A | ENSP00000445328.1:p.Met267Lys | |
| ENST00000556469.5:n.567T>A | ||
| NM_006939.2:c.800T>A | NP_008870.2:p.Met267Lys | |
| XM_005268021.1:c.620T>A | XP_005268078.1:p.Met207Lys | |
| XM_011537103.1:c.761T>A | XP_011535405.1:p.Met254Lys | |
| XM_011537104.1:c.800T>A | XP_011535406.1:p.Met267Lys | |
| XR_943842.1:n.954-1266A>T | ||
| XR_943843.1:n.954-1266A>T | ||
| NM_006939.3:c.800T>A | NP_008870.2:p.Met267Lys | |
| NM_006939.4:c.800T>A MANE Select | NP_008870.2:p.Met267Lys |