Annotation Detail
Information
- Associated Genes
- LIG1
- Associated Variants
-
LIG1 c.1822-131G>A
(
ENST00000263274.12,
ENST00000427526.6,
ENST00000596549.6,
ENST00000699866.1,
ENST00000699868.1,
ENST00000699871.1,
ENST00000699874.1,
ENST00000699875.1,
ENST00000699877.1 )
LIG1 c.1822-131G>A ( ENST00000263274.12, ENST00000427526.6, ENST00000596549.6, ENST00000699866.1, ENST00000699868.1, ENST00000699871.1, ENST00000699874.1, ENST00000699875.1, ENST00000699877.1 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_000234.3(LIG1):c.1822-131G>A AND not specified
- ClinVar Allele ID
- 2795784
- ClinVar RefSeq Alternation Syntax
- NM_001320971.2:c.1732-131G>A
- ClinVar RefSeq Alternation Syntax
- NM_000234.3:c.1822-131G>A
- ClinVar RefSeq Alternation Syntax
- NM_001289063.2:c.1729-131G>A
- ClinVar RefSeq Alternation Syntax
- NM_001320970.2:c.1819-131G>A
- ClinVar RefSeq Alternation Syntax
- NM_001289064.2:c.1618-131G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2023-11-12
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003397136
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs