ClinGen Classification:
Classification
Uncertain Significance
Condition
RASopathy
VCEP
RASopathy VCEP
ClinVar Variation:
dbSNP:
gnomAD v4:
Joint Max Group AF
0.0000088 (NFE)
Exomes Max Group AF
0.00000933 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4099314G>C , CM000681.2:g.4099314G>C | GRCh38 |
| NC_000019.9:g.4099312G>C , CM000681.1:g.4099312G>C | GRCh37 |
| NC_000019.8:g.4050312G>C | NCBI36 |
| NG_007996.1:g.29815C>G , LRG_750:g.29815C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.1245C>G | ||
| ENST00000687128.1:n.1245C>G | ||
| ENST00000688002.1:n.1100C>G | ||
| ENST00000689792.1:n.710C>G | ||
| ENST00000262948.10:c.806C>G MANE Select | ENSP00000262948.4:p.Pro269Arg | |
| ENST00000262948.9:c.806C>G | ENSP00000262948.3:p.Pro269Arg | |
| ENST00000394867.8:c.515C>G | ENSP00000378336.1:p.Pro172Arg | |
| ENST00000593364.5:n.753C>G | ||
| ENST00000595715.1:n.621C>G | ||
| ENST00000597263.5:n.169+1705C>G | ||
| ENST00000599021.1:c.29+1705C>G | ||
| ENST00000600584.5:n.1366C>G | ||
| ENST00000601786.5:n.1107C>G | ||
| NM_030662.3:c.806C>G , LRG_750t1:c.806C>G | NP_109587.1:p.Pro269Arg | |
| XM_006722799.2:c.705+1705C>G | XP_006722862.1:n.705+1705C>G | |
| XM_011528133.1:c.236C>G | XP_011526435.1:p.Pro79Arg | |
| XM_017026989.1:c.806C>G | XP_016882478.1:p.Pro269Arg | |
| XM_017026990.1:c.705+1705C>G | XP_016882479.1:n.705+1705C>G | |
| NM_030662.4:c.806C>G MANE Select | NP_109587.1:p.Pro269Arg |