TMTC3 Chromosome 12
Transmembrane O-mannosyltransferase targeting cadherins 3
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What This Gene Does
This gene encodes a protein that belongs to the transmembrane and tetratricopeptide repeat-containing protein family. [provided by RefSeq, May 2010]
Gene Info
Gene Group
"Tetratricopeptide repeat domain containing|Transmembrane O-mannosyltransferase targeting cadherins"
Locus Type
gene with protein product
Location
12q21.32
Ensembl
ENSG00000139324
Associated Conditions (2)
Inborn genetic diseases
Lissencephaly 8
Key Variants
RS375722916
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS771461068
Conflicting classifications of pathogenicity
Health Risk
RS2501965282
Likely pathogenic
Lissencephaly 8, Lissencephaly 8
Health Risk
RS2501978087
Likely pathogenic
Lissencephaly 8, Lissencephaly 8
Health Risk
RS754200057
Likely pathogenic
Lissencephaly 8, Lissencephaly 8
Health Risk
RS1057517696
Pathogenic
Lissencephaly 8, Lissencephaly 8
Health Risk
RS1057517697
Pathogenic
Lissencephaly 8, Lissencephaly 8
Health Risk
RS1057517698
Pathogenic
Lissencephaly 8, Lissencephaly 8
Health Risk
RS1057519417
Pathogenic
Lissencephaly 8, Lissencephaly 8
Health Risk
RS1417145000
Pathogenic
Health Risk
RS2041490074
Pathogenic
Lissencephaly 8, Lissencephaly 8
Health Risk
RS2501978213
Pathogenic
Health Risk
All Variants (14)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS375722916 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS771461068 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2501965282 | Health Risk | Likely pathogenic | Lissencephaly 8, Lissencephaly 8 |
| RS2501978087 | Health Risk | Likely pathogenic | Lissencephaly 8, Lissencephaly 8 |
| RS754200057 | Health Risk | Likely pathogenic | Lissencephaly 8, Lissencephaly 8 |
| RS1057517696 | Health Risk | Pathogenic | Lissencephaly 8, Lissencephaly 8 |
| RS1057517697 | Health Risk | Pathogenic | Lissencephaly 8, Lissencephaly 8 |
| RS1057517698 | Health Risk | Pathogenic | Lissencephaly 8, Lissencephaly 8 |
| RS1057519417 | Health Risk | Pathogenic | Lissencephaly 8, Lissencephaly 8 |
| RS1417145000 | Health Risk | Pathogenic | — |
| RS2041490074 | Health Risk | Pathogenic | Lissencephaly 8, Lissencephaly 8 |
| RS2501978213 | Health Risk | Pathogenic | — |
| RS746894544 | Health Risk | Pathogenic/Likely pathogenic | Lissencephaly 8, Lissencephaly 8 |
| RS768546704 | Health Risk | Pathogenic/Likely pathogenic | Lissencephaly 8, Lissencephaly 8 |