Annotation Detail
Information
- Associated Genes
- ACTA2 FAS
- Associated Variants
-
FAS c.-10C>A
(
ENST00000458159.6,
ENST00000355740.2,
ENST00000713602.1,
ENST00000357339.2,
ENST00000415557.2,
ENST00000352159.4 )
FAS c.-10C>A ( ENST00000415557.2, ENST00000458159.6, ENST00000713602.1, ENST00000357339.7, ENST00000494410.5, ENST00000562983.3, ENST00000652046.1, ENST00000690268.1, ENST00000696776.1, ENST00000696779.1, ENST00000696780.1, ENST00000696781.1, ENST00000697035.1 ) - Associated Disease
- Autoimmune lymphoproliferative syndrome type 1
- Source Database
- ClinVar
- Description
- NM_000043.6(FAS):c.-10C>A AND Autoimmune lymphoproliferative syndrome type 1
- ClinVar Allele ID
- 311593
- ClinVar RefSeq Alternation Syntax
- NM_000043.6:c.-10C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406463.1:c.-182+72G>T
- ClinVar RefSeq Alternation Syntax
- NR_028035.4:n.70C>A
- ClinVar RefSeq Alternation Syntax
- NM_152871.4:c.-10C>A
- ClinVar RefSeq Alternation Syntax
- NR_028036.4:n.70C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406462.1:c.-182+155G>T
- ClinVar RefSeq Alternation Syntax
- NR_135313.2:n.70C>A
- ClinVar RefSeq Alternation Syntax
- NM_001320619.2:c.-10C>A
- ClinVar RefSeq Alternation Syntax
- NM_001320855.2:c.-24+155G>T
- ClinVar RefSeq Alternation Syntax
- NM_001406471.1:c.-24+72G>T
- ClinVar RefSeq Alternation Syntax
- NR_028034.4:n.70C>A
- ClinVar RefSeq Alternation Syntax
- NM_001141945.3:c.-24+72G>T
- ClinVar RefSeq Alternation Syntax
- NM_001406467.1:c.-24+155G>T
- ClinVar RefSeq Alternation Syntax
- NR_028033.4:n.70C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406468.1:c.-24+72G>T
- ClinVar RefSeq Alternation Syntax
- NM_152872.4:c.-10C>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2016-06-14
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000265337
- ClinVar Disease
- Autoimmune lymphoproliferative syndrome type 1
- Observed Origin Sample
- germline
Drugs