Annotation Detail
Information
- Associated Genes
- GNAS
- Associated Variants
-
GNAS p.Ser894Arg (p.S894R)
(
ENST00000265620.11,
ENST00000306090.12,
ENST00000313949.11,
ENST00000349036.9,
ENST00000354359.12,
ENST00000371075.7,
ENST00000371085.8,
ENST00000371095.7,
ENST00000371100.9,
ENST00000371102.8,
ENST00000419558.7,
ENST00000453292.7,
ENST00000462499.6,
ENST00000464788.6,
ENST00000467227.6,
ENST00000467321.6,
ENST00000468895.6,
ENST00000469431.6,
ENST00000470512.6,
ENST00000472183.6,
ENST00000476935.6,
ENST00000477931.5,
ENST00000478585.6,
ENST00000480232.6,
ENST00000480975.5,
ENST00000481039.6,
ENST00000482112.6,
ENST00000485673.6,
ENST00000488546.6,
ENST00000488652.6,
ENST00000492907.6,
ENST00000603546.2,
ENST00000604005.6,
ENST00000656419.1,
ENST00000657090.1,
ENST00000663479.2,
ENST00000667293.2,
ENST00000676826.2,
ENST00000682803.1,
ENST00000683015.1 )
GNAS p.Ser894Arg (p.S894R) ( ENST00000265620.11, ENST00000306090.12, ENST00000313949.11, ENST00000349036.9, ENST00000354359.12, ENST00000371075.7, ENST00000371085.8, ENST00000371095.7, ENST00000371100.9, ENST00000371102.8, ENST00000419558.7, ENST00000453292.7, ENST00000462499.6, ENST00000464788.6, ENST00000467227.6, ENST00000467321.6, ENST00000468895.6, ENST00000469431.6, ENST00000470512.6, ENST00000472183.6, ENST00000476935.6, ENST00000477931.5, ENST00000478585.6, ENST00000480232.6, ENST00000480975.5, ENST00000481039.6, ENST00000482112.6, ENST00000485673.6, ENST00000488546.6, ENST00000488652.6, ENST00000492907.6, ENST00000603546.2, ENST00000604005.6, ENST00000656419.1, ENST00000657090.1, ENST00000663479.2, ENST00000667293.2, ENST00000676826.2, ENST00000682803.1, ENST00000683015.1 ) - Associated Disease
- pseudopseudohypoparathyroidism
- Source Database
- ClinVar
- Description
- NM_000516.7(GNAS):c.753C>G (p.Ser251Arg) AND Pseudopseudohypoparathyroidism
- ClinVar Allele ID
- 609150
- ClinVar RefSeq Alternation Syntax
- NM_001309840.2:c.576C>G
- ClinVar RefSeq Alternation Syntax
- NM_080425.4:c.2682C>G
- ClinVar RefSeq Alternation Syntax
- NM_080426.4:c.711C>G
- ClinVar RefSeq Alternation Syntax
- NM_016592.5:c.*659C>G
- ClinVar RefSeq Alternation Syntax
- NM_001077490.3:c.*614C>G
- ClinVar RefSeq Alternation Syntax
- NM_000516.7:c.753C>G
- ClinVar RefSeq Alternation Syntax
- NM_001309861.2:c.576C>G
- ClinVar RefSeq Alternation Syntax
- NM_001077488.5:c.756C>G
- ClinVar RefSeq Alternation Syntax
- NM_001077489.4:c.708C>G
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2019-02-08
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000754872
- ClinVar Disease
- Pseudopseudohypoparathyroidism
- Observed Origin Sample
- de novo
Drugs