Annotation Detail
Information
- Associated Genes
- LIG1
- Associated Variants
-
LIG1 p.Ala170= (p.A170=)
(
ENST00000263274.12,
ENST00000427526.6,
ENST00000596549.6,
ENST00000699866.1,
ENST00000699868.1,
ENST00000699871.1,
ENST00000699874.1,
ENST00000699875.1,
ENST00000699877.1 )
LIG1 p.Ala170= (p.A170=) ( ENST00000263274.12, ENST00000427526.6, ENST00000596549.6, ENST00000699866.1, ENST00000699868.1, ENST00000699871.1, ENST00000699874.1, ENST00000699875.1, ENST00000699877.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000234.3(LIG1):c.510C>A (p.Ala170=) AND not provided
- ClinVar Allele ID
- 390361
- ClinVar RefSeq Alternation Syntax
- NR_110296.2:n.668C>A
- ClinVar RefSeq Alternation Syntax
- NM_001289063.2:c.417C>A
- ClinVar RefSeq Alternation Syntax
- NR_135499.2:n.581C>A
- ClinVar RefSeq Alternation Syntax
- NR_135498.2:n.581C>A
- ClinVar RefSeq Alternation Syntax
- NM_001320970.2:c.507C>A
- ClinVar RefSeq Alternation Syntax
- NM_001320971.2:c.420C>A
- ClinVar RefSeq Alternation Syntax
- NR_135500.2:n.848C>A
- ClinVar RefSeq Alternation Syntax
- NR_135497.2:n.671C>A
- ClinVar RefSeq Alternation Syntax
- NR_135501.2:n.578C>A
- ClinVar RefSeq Alternation Syntax
- NM_000234.3:c.510C>A
- ClinVar RefSeq Alternation Syntax
- NM_001289064.2:c.371-1086C>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-02-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001519346
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs