Annotation Detail
Information
- Associated Genes
- PTPN11
- Associated Variants
-
PTPN11 p.Arg505Lys (p.R505K)
(
ENST00000635625.1,
ENST00000688597.1,
ENST00000351677.7,
ENST00000687906.1,
ENST00000690210.1,
ENST00000639857.2 )
PTPN11 p.Arg505Lys (p.R505K) ( ENST00000351677.7, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 ) - Associated Disease
- Epicanthus microcephaly
- Source Database
- ClinVar
- Description
- NM_002834.5(PTPN11):c.1502G>A (p.Arg501Lys) AND multiple conditions
- ClinVar Allele ID
- 49025
- ClinVar RefSeq Alternation Syntax
- NM_001374625.1:c.1499G>A
- ClinVar RefSeq Alternation Syntax
- NM_002834.5:c.1502G>A
- ClinVar RefSeq Alternation Syntax
- NM_001330437.2:c.1514G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-12-13
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001800333
- ClinVar Disease
- Microcephaly
- ClinVar Disease
- Epicanthus
- Observed Origin Sample
- germline
Drugs