Annotation Detail
Information
- Associated Genes
- SHOC2
- Associated Variants
-
SHOC2 p.Ser2Gly (p.S2G)
(
ENST00000369452.9,
ENST00000451838.2,
ENST00000265277.10,
ENST00000685059.1,
ENST00000688928.1,
ENST00000689118.1,
ENST00000689300.1,
ENST00000689997.1,
ENST00000691369.1,
ENST00000691441.1,
ENST00000691903.1,
ENST00000692776.1 )
SHOC2 p.Ser2Gly (p.S2G) ( ENST00000265277.10, ENST00000369452.9, ENST00000451838.2, ENST00000685059.1, ENST00000688928.1, ENST00000689118.1, ENST00000689300.1, ENST00000689997.1, ENST00000691369.1, ENST00000691441.1, ENST00000691903.1, ENST00000692776.1 ) - Associated Disease
- Noonan syndrome-like disorder with loose anagen hair 1 Pectus excavatum
- Source Database
- ClinVar
- Description
- NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) AND multiple conditions
- ClinVar Allele ID
- 21860
- ClinVar RefSeq Alternation Syntax
- NM_001324337.2:c.4A>G
- ClinVar RefSeq Alternation Syntax
- NM_001269039.3:c.4A>G
- ClinVar RefSeq Alternation Syntax
- NM_007373.4:c.4A>G
- ClinVar RefSeq Alternation Syntax
- NM_001324336.2:c.4A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003330311
- ClinVar Disease
- Noonan syndrome-like disorder with loose anagen hair 1
- ClinVar Disease
- Pectus excavatum
- Observed Origin Sample
- germline
Drugs