Annotation Detail
Information
- Associated Genes
- FOXRED1
- Associated Variants
-
FOXRED1 p.Ile485Asn (p.I485N)
(
ENST00000692336.1,
ENST00000685484.1,
ENST00000688588.1,
ENST00000263578.10,
ENST00000533839.6,
ENST00000532125.2 )
FOXRED1 p.Ile485Asn (p.I485N) ( ENST00000263578.10, ENST00000532125.2, ENST00000533839.6, ENST00000685484.1, ENST00000688588.1, ENST00000692336.1 ) - Associated Disease
- Developmental delay
- Source Database
- ClinVar
- Description
- NM_017547.4(FOXRED1):c.1454T>A (p.Ile485Asn) AND Developmental delay
- ClinVar Allele ID
- 444751
- ClinVar RefSeq Alternation Syntax
- NM_017547.4:c.1454T>A
- ClinVar RefSeq Alternation Syntax
- NR_037648.2:n.1631T>A
- ClinVar RefSeq Alternation Syntax
- NR_037647.2:n.1286T>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2017-08-09
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000678792
- ClinVar Disease
- Developmental delay
- Observed Origin Sample
- germline
Drugs