Annotation Detail
Information
- Associated Genes
- GNB1
- Associated Variants
-
GNB1 p.Lys78Arg (p.K78R)
(
ENST00000703696.1,
ENST00000703705.1,
ENST00000703704.1,
ENST00000703692.1,
ENST00000703708.1,
ENST00000703693.1,
ENST00000703702.1,
ENST00000703703.1,
ENST00000703699.1,
ENST00000703701.1,
ENST00000610897.4,
ENST00000703706.1,
ENST00000703694.1,
ENST00000703697.1,
ENST00000703709.1,
ENST00000703711.1,
ENST00000615252.5,
ENST00000703710.1,
ENST00000378609.9,
ENST00000703707.1,
ENST00000703700.1 )
GNB1 p.Lys78Arg (p.K78R) ( ENST00000378609.9, ENST00000610897.4, ENST00000615252.5, ENST00000703692.1, ENST00000703693.1, ENST00000703694.1, ENST00000703696.1, ENST00000703697.1, ENST00000703699.1, ENST00000703700.1, ENST00000703701.1, ENST00000703702.1, ENST00000703703.1, ENST00000703704.1, ENST00000703705.1, ENST00000703706.1, ENST00000703707.1, ENST00000703708.1, ENST00000703709.1, ENST00000703710.1, ENST00000703711.1 ) - Associated Disease
- Inborn genetic diseases
- Source Database
- ClinVar
- Description
- NM_002074.5(GNB1):c.233A>G (p.Lys78Arg) AND Inborn genetic diseases
- ClinVar Allele ID
- 226499
- ClinVar RefSeq Alternation Syntax
- NM_002074.5:c.233A>G
- ClinVar RefSeq Alternation Syntax
- NM_001282539.2:c.233A>G
- ClinVar RefSeq Alternation Syntax
- NM_001282538.2:c.-68A>G
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2018-06-13
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001266591
- ClinVar Disease
- Inborn genetic diseases
- Observed Origin Sample
- germline
Drugs