Annotation Detail
Information
- Associated Genes
- ADAR
- Associated Variants
-
ADAR p.Tyr587Cys (p.Y587C)
(
ENST00000494866.2,
ENST00000471068.3,
ENST00000529168.2,
ENST00000526905.3,
ENST00000368471.8,
ENST00000368474.9,
ENST00000648231.2,
ENST00000648311.1,
ENST00000648871.2,
ENST00000649022.2,
ENST00000649724.2,
ENST00000649749.1,
ENST00000679899.1,
ENST00000680270.2,
ENST00000680305.1,
ENST00000681056.2,
ENST00000681683.1,
ENST00000713626.1,
ENST00000713630.1,
ENST00000713631.1,
ENST00000713632.1,
ENST00000713633.1,
ENST00000713634.1 )
ADAR p.Tyr587Cys (p.Y587C) ( ENST00000368471.8, ENST00000368474.9, ENST00000471068.3, ENST00000494866.2, ENST00000526905.3, ENST00000529168.2, ENST00000648231.2, ENST00000648311.1, ENST00000648871.2, ENST00000649022.2, ENST00000649724.2, ENST00000649749.1, ENST00000679899.1, ENST00000680270.2, ENST00000680305.1, ENST00000681056.2, ENST00000681683.1, ENST00000713626.1, ENST00000713630.1, ENST00000713631.1, ENST00000713632.1, ENST00000713633.1, ENST00000713634.1 ) - Associated Disease
- Symmetrical dyschromatosis of extremities Aicardi-Goutieres syndrome 6
- Source Database
- ClinVar
- Description
- NM_001111.5(ADAR):c.1760A>G (p.Tyr587Cys) AND multiple conditions
- ClinVar Allele ID
- 193473
- ClinVar RefSeq Alternation Syntax
- NM_001365048.1:c.875A>G
- ClinVar RefSeq Alternation Syntax
- NM_001365047.1:c.875A>G
- ClinVar RefSeq Alternation Syntax
- NM_001111.5:c.1760A>G
- ClinVar RefSeq Alternation Syntax
- NM_001365049.1:c.875A>G
- ClinVar RefSeq Alternation Syntax
- NM_015840.4:c.1760A>G
- ClinVar RefSeq Alternation Syntax
- NM_001193495.2:c.875A>G
- ClinVar RefSeq Alternation Syntax
- NM_001365046.1:c.875A>G
- ClinVar RefSeq Alternation Syntax
- NM_015841.4:c.1760A>G
- ClinVar RefSeq Alternation Syntax
- NM_001365045.1:c.1787A>G
- ClinVar RefSeq Alternation Syntax
- NM_001025107.3:c.875A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-01-30
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001085910
- ClinVar Disease
- Symmetrical dyschromatosis of extremities
- ClinVar Disease
- Aicardi-Goutieres syndrome 6
- Observed Origin Sample
- germline
Drugs