Annotation Detail
Information
- Associated Genes
- FERMT1
- Associated Variants
-
FERMT1 p.His38= (p.H38=)
(
ENST00000217289.9,
ENST00000699095.1,
ENST00000699098.1 )
FERMT1 p.His38= (p.H38=) ( ENST00000217289.9, ENST00000699095.1, ENST00000699098.1 ) - Associated Disease
- Kindler syndrome
- Source Database
- ClinVar
- Description
- NM_017671.5(FERMT1):c.114T>C (p.His38=) AND Kindler syndrome
- ClinVar Allele ID
- 257384
- ClinVar RefSeq Alternation Syntax
- NM_017671.5:c.114T>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-08-10
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000267216
- ClinVar Disease
- Kindler syndrome
- Observed Origin Sample
- germline
Drugs