Annotation Detail
Information
- Associated Genes
- PTCH1
- Associated Variants
-
PTCH1 p.Pro1315Leu (p.P1315L)
(
ENST00000331920.11,
ENST00000429896.6,
ENST00000430669.6,
ENST00000437951.6,
ENST00000692981.1,
ENST00000711046.1 )
PTCH1 p.Pro1315Leu (p.P1315L) ( ENST00000331920.11, ENST00000429896.6, ENST00000430669.6, ENST00000437951.6, ENST00000692981.1, ENST00000711046.1 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_000264.5(PTCH1):c.3944C>T (p.Pro1315Leu) AND not specified
- ClinVar Allele ID
- 50102
- ClinVar RefSeq Alternation Syntax
- NM_001083603.3:c.3941C>T
- ClinVar RefSeq Alternation Syntax
- NM_001083604.3:c.3491C>T
- ClinVar RefSeq Alternation Syntax
- NR_149061.2:n.4683C>T
- ClinVar RefSeq Alternation Syntax
- NM_000264.5:c.3944C>T
- ClinVar RefSeq Alternation Syntax
- NM_001083605.3:c.3491C>T
- ClinVar RefSeq Alternation Syntax
- NM_001083606.3:c.3491C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354918.2:c.3788C>T
- ClinVar RefSeq Alternation Syntax
- NM_001083602.3:c.3746C>T
- ClinVar RefSeq Alternation Syntax
- NM_001083607.3:c.3491C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2016-03-28
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000078463
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs