Annotation Detail
Information
- Associated Genes
- LIG4
- Associated Variants
-
LIG4 p.Asp568= (p.D568=)
(
ENST00000611712.4,
ENST00000687822.1,
ENST00000693040.1,
ENST00000405925.2,
ENST00000692222.1,
ENST00000686926.1,
ENST00000442234.6,
ENST00000688529.1,
ENST00000688455.1,
ENST00000690127.1,
ENST00000688396.1,
ENST00000686204.1,
ENST00000687164.1,
ENST00000688595.1,
ENST00000686913.1,
ENST00000685338.1,
ENST00000686095.1,
ENST00000689762.1,
ENST00000614526.2 )
LIG4 p.Asp568= (p.D568=) ( ENST00000405925.2, ENST00000442234.6, ENST00000611712.4, ENST00000614526.2, ENST00000685338.1, ENST00000686095.1, ENST00000686204.1, ENST00000686913.1, ENST00000686926.1, ENST00000687164.1, ENST00000687822.1, ENST00000688396.1, ENST00000688455.1, ENST00000688529.1, ENST00000688595.1, ENST00000689762.1, ENST00000690127.1, ENST00000692222.1, ENST00000693040.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_206937.2(LIG4):c.1704T>C (p.Asp568=) AND not provided
- ClinVar Allele ID
- 134928
- ClinVar RefSeq Alternation Syntax
- NM_001352602.2:c.1704T>C
- ClinVar RefSeq Alternation Syntax
- NM_001352603.1:c.1704T>C
- ClinVar RefSeq Alternation Syntax
- NM_001352604.2:c.1740T>C
- ClinVar RefSeq Alternation Syntax
- NM_001352600.2:c.1704T>C
- ClinVar RefSeq Alternation Syntax
- NM_001352601.2:c.1704T>C
- ClinVar RefSeq Alternation Syntax
- NM_001379095.1:c.1704T>C
- ClinVar RefSeq Alternation Syntax
- NM_001352598.2:c.1704T>C
- ClinVar RefSeq Alternation Syntax
- NM_002312.3:c.1704T>C
- ClinVar RefSeq Alternation Syntax
- NM_206937.2:c.1704T>C
- ClinVar RefSeq Alternation Syntax
- NM_001330595.2:c.1503T>C
- ClinVar RefSeq Alternation Syntax
- NM_001098268.2:c.1704T>C
- ClinVar RefSeq Alternation Syntax
- NM_001352599.2:c.1704T>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2023-11-29
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001705845
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs