Annotation Detail
Information
- Associated Genes
- PTCH1 LOC100507346
- Associated Variants
-
PTCH1 p.Leu664ArgfsTer27 (p.L664Rfs*27)
(
ENST00000331920.11,
ENST00000429896.6,
ENST00000430669.6,
ENST00000437951.6,
ENST00000692981.1,
ENST00000711046.1 )
PTCH1 p.Leu664ArgfsTer27 (p.L664Rfs*27) ( ENST00000331920.11, ENST00000429896.6, ENST00000430669.6, ENST00000437951.6, ENST00000692981.1, ENST00000711046.1 ) - Associated Disease
- Congenital hydrocephalus
- Source Database
- ClinVar
- Description
- NM_000264.5(PTCH1):c.1991_1997del (p.Leu664fs) AND Congenital hydrocephalus
- ClinVar Allele ID
- 672255
- ClinVar RefSeq Alternation Syntax
- NR_149061.2:n.2896_2902del
- ClinVar RefSeq Alternation Syntax
- NM_001083606.3:c.1538_1544del
- ClinVar RefSeq Alternation Syntax
- NM_000264.5:c.1991_1997del
- ClinVar RefSeq Alternation Syntax
- NM_001083603.3:c.1988_1994del
- ClinVar RefSeq Alternation Syntax
- NR_038982.1:n.943_949del
- ClinVar RefSeq Alternation Syntax
- NM_001354918.2:c.1835_1841del
- ClinVar RefSeq Alternation Syntax
- NM_001083604.3:c.1538_1544del
- ClinVar RefSeq Alternation Syntax
- NM_001083605.3:c.1538_1544del
- ClinVar RefSeq Alternation Syntax
- NM_001083602.3:c.1793_1799del
- ClinVar RefSeq Alternation Syntax
- NM_001083607.3:c.1538_1544del
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2018-07-05
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000845213
- ClinVar Disease
- Congenital hydrocephalus
- Observed Origin Sample
- germline
Drugs