Variants
GP1BB variants
The 21 GP1BB variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| A105Pfs*88 | c.313del | Exon 2 | 19,724,154 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A150Rfs*43 | c.448del | Exon 2 | 19,724,285 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A156Gfs*153 | c.466dup | Exon 2 | 19,724,308 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.1A>T | Exon 1 | 19,723,570 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| C30Y | c.89G>A | Exon 2 | 19,723,932 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C32X | c.96C>A | Exon 2 | 19,723,939 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C141X | c.423C>A | Exon 2 | 19,724,266 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C147S | c.439T>A | Exon 2 | 19,724,282 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E136X | c.406G>T | Exon 2 | 19,724,249 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G106Afs*87 | c.315del | Exon 2 | 19,724,156 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| H164Qfs*145 | c.491dup | Exon 2 | 19,724,333 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L16P | c.47T>C | Exon 2 | 19,723,890 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| N89D | c.265A>G | Exon 2 | 19,724,108 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| N89T | c.266A>C | Exon 2 | 19,724,109 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| P79_L81del | c.236_244del | Exon 2 | 19,724,070 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| P90R | c.269C>G | Exon 2 | 19,724,112 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| P90S | c.268C>T | Exon 2 | 19,724,111 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| S48X | c.143C>A | Exon 2 | 19,723,986 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| W46X | c.137G>A | Exon 2 | 19,723,980 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| W148X | c.443G>A | Exon 2 | 19,724,286 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y113C | c.338A>G | Exon 2 | 19,724,181 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |