Annotation Detail
Information
- Associated Genes
- ERCC1 POLR1G
- Associated Variants
-
POLR1G p.Gln506Lys (p.Q506K)
(
ENST00000300853.8,
ENST00000423698.6,
ENST00000309424.8,
ENST00000589804.1 )
POLR1G p.Gln506Lys (p.Q506K) ( ENST00000300853.8, ENST00000423698.6, ENST00000309424.8, ENST00000589804.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_012099.3(POLR1G):c.1510C>A (p.Gln504Lys) AND not provided
- ClinVar Allele ID
- 227807
- ClinVar RefSeq Alternation Syntax
- NM_001369412.1:c.*197G>T
- ClinVar RefSeq Alternation Syntax
- NM_001983.4:c.*197G>T
- ClinVar RefSeq Alternation Syntax
- NM_001297590.3:c.1516C>A
- ClinVar RefSeq Alternation Syntax
- NM_001369414.1:c.*197G>T
- ClinVar RefSeq Alternation Syntax
- NM_001369418.1:c.*197G>T
- ClinVar RefSeq Alternation Syntax
- NM_012099.3:c.1510C>A
- ClinVar RefSeq Alternation Syntax
- NM_001369415.1:c.*197G>T
- ClinVar RefSeq Alternation Syntax
- NM_001369419.1:c.*197G>T
- ClinVar RefSeq Alternation Syntax
- NM_001369416.1:c.*197G>T
- ClinVar RefSeq Alternation Syntax
- NM_001166049.2:c.*197G>T
- ClinVar RefSeq Alternation Syntax
- NM_001369413.1:c.*197G>T
- ClinVar RefSeq Alternation Syntax
- NM_001369417.1:c.*197G>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-01-30
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001675675
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs