Annotation Detail
Information
- Associated Genes
- PTCH1 LOC100507346
- Associated Variants
-
PTCH1 p.Thr728Met (p.T728M)
(
ENST00000429896.6,
ENST00000331920.11,
ENST00000430669.6,
ENST00000437951.6,
ENST00000692981.1,
ENST00000711046.1 )
PTCH1 p.Thr728Met (p.T728M) ( ENST00000331920.11, ENST00000429896.6, ENST00000430669.6, ENST00000437951.6, ENST00000692981.1, ENST00000711046.1 ) - Associated Disease
- holoprosencephaly 7
- Source Database
- ClinVar
- Description
- NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met) AND Holoprosencephaly 7
- ClinVar Allele ID
- 23261
- ClinVar RefSeq Alternation Syntax
- NM_001083606.3:c.1730C>T
- ClinVar RefSeq Alternation Syntax
- NM_001083605.3:c.1730C>T
- ClinVar RefSeq Alternation Syntax
- NM_001083607.3:c.1730C>T
- ClinVar RefSeq Alternation Syntax
- NR_038982.1:n.756G>A
- ClinVar RefSeq Alternation Syntax
- NM_001083604.3:c.1730C>T
- ClinVar RefSeq Alternation Syntax
- NR_149061.2:n.3088C>T
- ClinVar RefSeq Alternation Syntax
- NM_000264.5:c.2183C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354918.2:c.2027C>T
- ClinVar RefSeq Alternation Syntax
- NM_001083602.3:c.1985C>T
- ClinVar RefSeq Alternation Syntax
- NM_001083603.3:c.2180C>T
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2017-04-27
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000008705
- ClinVar Disease
- Holoprosencephaly 7
- Observed Origin Sample
- germline
- Pubmed
- 17096318
- Pubmed
- 11941477
Drugs