Annotation Detail
Information
- Associated Genes
- LRTOMT LRRC51
- Associated Variants
-
LRRC51 c.*170delT, LRTOMT c.34+594delT
(
ENST00000324866.11,
ENST00000439209.5,
ENST00000642510.1,
ENST00000307198.11,
ENST00000423494.6,
ENST00000545249.5,
ENST00000535107.5,
ENST00000536917.2,
ENST00000289488.8,
ENST00000538413.6,
ENST00000642648.1,
ENST00000541614.5,
ENST00000643715.1 )
LRRC51 c.*170delT, LRTOMT c.34+594delT ( ENST00000535107.5, ENST00000545249.5, ENST00000307198.11, ENST00000439209.5, ENST00000643715.1, ENST00000289488.8, ENST00000324866.11, ENST00000423494.6, ENST00000536917.2, ENST00000538413.6, ENST00000541614.5, ENST00000642510.1, ENST00000642648.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_145309.6(LRRC51):c.*170del AND not provided
- ClinVar Allele ID
- 1218803
- ClinVar RefSeq Alternation Syntax
- NM_001205138.4:c.*170del
- ClinVar RefSeq Alternation Syntax
- NM_001318803.2:c.*170del
- ClinVar RefSeq Alternation Syntax
- NM_001145309.4:c.34+594del
- ClinVar RefSeq Alternation Syntax
- NR_134858.2:n.703del
- ClinVar RefSeq Alternation Syntax
- NM_001271471.3:c.*590del
- ClinVar RefSeq Alternation Syntax
- NM_001145307.5:c.437+594del
- ClinVar RefSeq Alternation Syntax
- NM_001145308.5:c.34+594del
- ClinVar RefSeq Alternation Syntax
- NM_001145310.4:c.34+594del
- ClinVar RefSeq Alternation Syntax
- NR_026886.4:n.1104del
- ClinVar RefSeq Alternation Syntax
- NM_145309.6:c.*170del
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2020-02-06
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001616431
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs