PIGB Chromosome 15
Phosphatidylinositol glycan anchor biosynthesis class B
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What This Gene Does
This gene encodes a transmembrane protein that is located in the endoplasmic reticulum and is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene is thought to encode a member of a family of dolichol-phosphate-mannose (Dol-P-Man) dependent mannosyltransferases. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Dolichyl D-mannosyl phosphate dependent mannosyltransferases|Phosphatidylinositol glycan anchor biosynthesis"
Locus Type
gene with protein product
Location
15q21.3
Ensembl
ENSG00000069943
Associated Conditions (3)
Developmental and epileptic encephalopathy
80
Inborn genetic diseases
Key Variants
RS1299941421
Conflicting classifications of pathogenicity
Health Risk
RS187070265
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 80, Inborn genetic diseases
Health Risk
RS367727920
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS367927367
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 80, Developmental and epileptic encephalopathy
Health Risk
RS377161481
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS763399137
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 80, Developmental and epileptic encephalopathy
Health Risk
RS942714779
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1163732372
Likely pathogenic
Developmental and epileptic encephalopathy, 80, Developmental and epileptic encephalopathy
Health Risk
RS1225703225
Likely pathogenic
Health Risk
RS1469912999
Likely pathogenic
Health Risk
RS2543089023
Likely pathogenic
Health Risk
RS372158001
Likely pathogenic
Developmental and epileptic encephalopathy, 80, Developmental and epileptic encephalopathy
Health Risk
All Variants (35)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1299941421 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS187070265 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 80, Inborn genetic diseases |
| RS367727920 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS367927367 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 80, Developmental and epileptic encephalopathy |
| RS377161481 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS763399137 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 80, Developmental and epileptic encephalopathy |
| RS942714779 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1163732372 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 80, Developmental and epileptic encephalopathy |
| RS1225703225 | Health Risk | Likely pathogenic | — |
| RS1469912999 | Health Risk | Likely pathogenic | — |
| RS2543089023 | Health Risk | Likely pathogenic | — |
| RS372158001 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 80, Developmental and epileptic encephalopathy |
| RS767831472 | Health Risk | Likely pathogenic | — |
| RS1182521445 | Health Risk | Pathogenic | — |
| RS1357427054 | Health Risk | Pathogenic | — |
| RS1447687114 | Health Risk | Pathogenic | — |
| RS1595791368 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 80, Developmental and epileptic encephalopathy |
| RS1595805026 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 80, Developmental and epileptic encephalopathy |
| RS2055157360 | Health Risk | Pathogenic | — |
| RS2055651687 | Health Risk | Pathogenic | — |
| RS2543051984 | Health Risk | Pathogenic | — |
| RS2543082930 | Health Risk | Pathogenic | — |
| RS2543144045 | Health Risk | Pathogenic | — |
| RS2543144178 | Health Risk | Pathogenic | — |
| RS369838467 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 80, Developmental and epileptic encephalopathy |
| RS746861070 | Health Risk | Pathogenic | — |
| RS750897569 | Health Risk | Pathogenic | — |
| RS756195113 | Health Risk | Pathogenic | — |
| RS756552559 | Health Risk | Pathogenic | — |
| RS770161203 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 80, Developmental and epileptic encephalopathy |
| RS779296101 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 80, Developmental and epileptic encephalopathy |
| RS923907091 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 80, Developmental and epileptic encephalopathy |
| RS979067591 | Health Risk | Pathogenic | — |
| RS2056056414 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 80, Developmental and epileptic encephalopathy |
| RS758196959 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 80, Developmental and epileptic encephalopathy |