Annotation Detail
Information
- Associated Genes
- FOLH1
- Associated Variants
-
FOLH1 p.Arg536Trp (p.R536W)
(
ENST00000533034.1,
ENST00000256999.7,
ENST00000356696.7,
ENST00000340334.11 )
FOLH1 p.Arg536Trp (p.R536W) ( ENST00000256999.7, ENST00000340334.11, ENST00000356696.7, ENST00000533034.1 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_004476.3(FOLH1):c.1606C>T (p.Arg536Trp) AND not specified
- ClinVar Allele ID
- 3253807
- ClinVar RefSeq Alternation Syntax
- NM_001193473.3:c.682C>T
- ClinVar RefSeq Alternation Syntax
- NM_001014986.3:c.1606C>T
- ClinVar RefSeq Alternation Syntax
- NM_001193472.3:c.1561C>T
- ClinVar RefSeq Alternation Syntax
- NM_001351236.2:c.1435C>T
- ClinVar RefSeq Alternation Syntax
- NM_001193471.3:c.1561C>T
- ClinVar RefSeq Alternation Syntax
- NM_004476.3:c.1606C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-11-21
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV004392071
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs