Annotation Detail
Information
- Associated Genes
- STAT1
- Associated Variants
-
STAT1 c.2136-318G>A
(
ENST00000361099.8,
ENST00000409465.5,
ENST00000540176.6,
ENST00000673777.1,
ENST00000673816.1,
ENST00000673847.1,
ENST00000673942.1,
ENST00000673952.1,
ENST00000698141.1,
ENST00000698142.1,
ENST00000698145.1 )
STAT1 c.2136-318G>A ( ENST00000361099.8, ENST00000409465.5, ENST00000540176.6, ENST00000673777.1, ENST00000673816.1, ENST00000673847.1, ENST00000673942.1, ENST00000673952.1, ENST00000698141.1, ENST00000698142.1, ENST00000698145.1 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_007315.4(STAT1):c.2136-318G>A AND not specified
- ClinVar Allele ID
- 1254164
- ClinVar RefSeq Alternation Syntax
- NM_001384882.1:c.2130-318G>A
- ClinVar RefSeq Alternation Syntax
- NM_001384884.1:c.1963-382G>A
- ClinVar RefSeq Alternation Syntax
- NM_001384889.1:c.2136-330G>A
- ClinVar RefSeq Alternation Syntax
- NM_007315.4:c.2136-318G>A
- ClinVar RefSeq Alternation Syntax
- NM_001384883.1:c.2037-318G>A
- ClinVar RefSeq Alternation Syntax
- NM_001384887.1:c.2043-318G>A
- ClinVar RefSeq Alternation Syntax
- NM_001384888.1:c.2106-318G>A
- ClinVar RefSeq Alternation Syntax
- NM_001384885.1:c.1977-318G>A
- ClinVar RefSeq Alternation Syntax
- NM_001384886.1:c.2160-318G>A
- ClinVar RefSeq Alternation Syntax
- NM_001384880.1:c.2076-318G>A
- ClinVar RefSeq Alternation Syntax
- NM_001384891.1:c.2172-318G>A
- ClinVar RefSeq Alternation Syntax
- NM_001384881.1:c.2142-318G>A
- ClinVar RefSeq Alternation Syntax
- NM_001384890.1:c.2046-318G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-01-24
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003487659
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs