Annotation Detail
Information
- Associated Genes
- AMOTL1
- Associated Variants
-
AMOTL1 p.Pro160Leu (p.P160L)
(
ENST00000433060.3,
ENST00000317829.12 )
AMOTL1 p.Pro160Leu (p.P160L) ( ENST00000317829.12, ENST00000433060.3 ) - Associated Disease
- Cleft lip/palate Hypertelorism imperforate anus with fistula
- Source Database
- ClinVar
- Description
- NM_130847.3(AMOTL1):c.479C>T (p.Pro160Leu) AND multiple conditions
- ClinVar Allele ID
- 917804
- ClinVar RefSeq Alternation Syntax
- NM_001301007.2:c.329C>T
- ClinVar RefSeq Alternation Syntax
- NM_130847.3:c.479C>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2019-06-20
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001254927
- ClinVar Disease
- imperforate anus with fistula
- ClinVar Disease
- Hypertelorism
- ClinVar Disease
- Cleft lip/palate
- Observed Origin Sample
- germline
Drugs