Gene >> NF2
| ID |
1 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000338641 |
| Start |
29658262:29658262(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.673C>T |
| AA Mutation |
p.Arg225Trp(p.R225W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000338641 |
| Start |
29668448:29668448(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.999+2T>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |