Annotation Detail
Information
- Associated Genes
- GSN
- Associated Variants
-
GSN p.Asn231Asp (p.N231D)
(
ENST00000373808.8,
ENST00000373818.8,
ENST00000373823.7,
ENST00000394353.7,
ENST00000432226.7,
ENST00000449733.7,
ENST00000545652.6,
ENST00000699558.1 )
GSN p.Asn231Asp (p.N231D) ( ENST00000373808.8, ENST00000373818.8, ENST00000373823.7, ENST00000394353.7, ENST00000432226.7, ENST00000449733.7, ENST00000545652.6, ENST00000699558.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_198252.3(GSN):c.538A>G (p.Asn180Asp) AND not provided
- ClinVar Allele ID
- 711742
- ClinVar RefSeq Alternation Syntax
- NM_001127663.2:c.646A>G
- ClinVar RefSeq Alternation Syntax
- NM_001127665.2:c.538A>G
- ClinVar RefSeq Alternation Syntax
- NM_001353055.2:c.538A>G
- ClinVar RefSeq Alternation Syntax
- NM_198252.3:c.538A>G
- ClinVar RefSeq Alternation Syntax
- NM_001353067.2:c.571A>G
- ClinVar RefSeq Alternation Syntax
- NM_001258029.2:c.589A>G
- ClinVar RefSeq Alternation Syntax
- NM_001353061.2:c.538A>G
- ClinVar RefSeq Alternation Syntax
- NM_001353063.2:c.571A>G
- ClinVar RefSeq Alternation Syntax
- NM_001353057.2:c.538A>G
- ClinVar RefSeq Alternation Syntax
- NM_001353068.2:c.571A>G
- ClinVar RefSeq Alternation Syntax
- NM_001353054.1:c.538A>G
- ClinVar RefSeq Alternation Syntax
- NM_001353073.2:c.571A>G
- ClinVar RefSeq Alternation Syntax
- NM_001127662.2:c.538A>G
- ClinVar RefSeq Alternation Syntax
- NM_000177.5:c.691A>G
- ClinVar RefSeq Alternation Syntax
- NM_001353074.2:c.571A>G
- ClinVar RefSeq Alternation Syntax
- NM_001353064.2:c.571A>G
- ClinVar RefSeq Alternation Syntax
- NM_001353056.2:c.538A>G
- ClinVar RefSeq Alternation Syntax
- NM_001353070.2:c.571A>G
- ClinVar RefSeq Alternation Syntax
- NM_001353076.2:c.610A>G
- ClinVar RefSeq Alternation Syntax
- NM_001353069.2:c.571A>G
- ClinVar RefSeq Alternation Syntax
- NM_001353072.2:c.571A>G
- ClinVar RefSeq Alternation Syntax
- NM_001258030.2:c.562A>G
- ClinVar RefSeq Alternation Syntax
- NM_001127666.2:c.571A>G
- ClinVar RefSeq Alternation Syntax
- NM_001353077.1:c.571A>G
- ClinVar RefSeq Alternation Syntax
- NM_001353065.2:c.571A>G
- ClinVar RefSeq Alternation Syntax
- NM_001353059.2:c.538A>G
- ClinVar RefSeq Alternation Syntax
- NM_001353060.2:c.538A>G
- ClinVar RefSeq Alternation Syntax
- NM_001353071.2:c.571A>G
- ClinVar RefSeq Alternation Syntax
- NM_001353075.1:c.571A>G
- ClinVar RefSeq Alternation Syntax
- NM_001127667.2:c.571A>G
- ClinVar RefSeq Alternation Syntax
- NM_001127664.2:c.538A>G
- ClinVar RefSeq Alternation Syntax
- NM_001353062.1:c.538A>G
- ClinVar RefSeq Alternation Syntax
- NM_001353066.2:c.571A>G
- ClinVar RefSeq Alternation Syntax
- NM_001353053.1:c.538A>G
- ClinVar RefSeq Alternation Syntax
- NM_001353058.2:c.538A>G
- ClinVar RefSeq Alternation Syntax
- NM_001353078.2:c.-117A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-01-31
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000961960
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs