Variants
CTLA4 variants
The 15 CTLA4 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 |
|---|---|---|---|---|---|
| A121Pfs*23 | c.361del | Exon 2 | 203,870,834 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C35X | c.105C>A | Exon 1 | 203,868,047 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D153N | c.457G>A | Exon 2 | 203,870,933 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L24Pfs*35 | c.71_72del | Exon 1 | 203,868,009 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L28Ffs*44 | c.75del | Exon 1 | 203,868,016 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L28Sfs*32 | c.81dup | Exon 1 | 203,868,017 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| P32Ffs*29 | c.94_101delinsTTCTCTTCATCA | Exon 1 | 203,868,036 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| P136A | c.406C>G | Exon 2 | 203,870,882 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| P136L | c.407C>T | Exon 2 | 203,870,883 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| P136S | c.406C>T | Exon 2 | 203,870,882 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| P137L | c.410C>T | Exon 2 | 203,870,886 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| P137R | c.410C>G | Exon 2 | 203,870,886 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R51X | c.151C>T | Exon 2 | 203,870,627 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R75W | c.223C>T | Exon 2 | 203,870,699 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y139C | c.416A>G | Exon 2 | 203,870,892 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |