Annotation Detail
Information
- Associated Genes
- IFT81
- Associated Variants
-
IFT81 p.Asp672AlafsTer15 (p.D672Afs*15)
(
ENST00000242591.10,
ENST00000552912.5 )
IFT81 p.Asp672AlafsTer15 (p.D672Afs*15) ( ENST00000242591.10, ENST00000552912.5 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_014055.4(IFT81):c.2015_2019del (p.Asp672fs) AND not provided
- ClinVar Allele ID
- 215652
- ClinVar RefSeq Alternation Syntax
- NR_144951.2:n.2245_2249del
- ClinVar RefSeq Alternation Syntax
- NR_144952.2:n.2663_2667del
- ClinVar RefSeq Alternation Syntax
- NR_144950.2:n.2081_2085del
- ClinVar RefSeq Alternation Syntax
- NM_001143779.2:c.2015_2019del
- ClinVar RefSeq Alternation Syntax
- NR_144949.2:n.2573_2577del
- ClinVar RefSeq Alternation Syntax
- NM_001347947.2:c.1085_1089del
- ClinVar RefSeq Alternation Syntax
- NM_014055.4:c.2015_2019del
- ClinVar RefSeq Alternation Syntax
- NM_001347948.2:c.1085_1089del
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-12-03
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001230970
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs