Annotation Detail
Information
- Associated Genes
- TTC7A
- Associated Variants
-
TTC7A p.Glu96Ter (p.E96*)
(
ENST00000319190.11,
ENST00000394850.6,
ENST00000409245.5 )
TTC7A p.Glu96Ter (p.E96*) ( ENST00000319190.11, ENST00000394850.6, ENST00000409245.5 ) - Associated Disease
- Gastrointestinal defects and immunodeficiency syndrome 1
- Source Database
- ClinVar
- Description
- NM_020458.4(TTC7A):c.286G>T (p.Glu96Ter) AND Gastrointestinal defects and immunodeficiency syndrome 1
- ClinVar Allele ID
- 268384
- ClinVar RefSeq Alternation Syntax
- NM_001288953.2:c.184G>T
- ClinVar RefSeq Alternation Syntax
- NM_001288951.2:c.286G>T
- ClinVar RefSeq Alternation Syntax
- NM_001288955.2:c.-619G>T
- ClinVar RefSeq Alternation Syntax
- NM_020458.4:c.286G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-02-02
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002272204
- ClinVar Disease
- Gastrointestinal defects and immunodeficiency syndrome 1
- Observed Origin Sample
- germline
Drugs