chr20:58909365:C>A Detail (hg38) (GNAS)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr20:57,484,420-57,484,420 View the variant detail on this assembly version. |
hg38 | chr20:58,909,365-58,909,365 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001309840.1:c.*504C>A | |
NM_001309861.1:c.*504C>A | ||
NM_001077489.3:c.556C>A | NP_001070957.1:p.Arg186Ser |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2003-05-01 | no assertion criteria provided | PITUITARY TUMOR 3, GROWTH HORMONE-SECRETING, SOMATIC |
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Detail |
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2003-05-01 | no assertion criteria provided | Polyostotic fibrous dysplasia, somatic, mosaic |
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Detail |
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2003-05-01 | no assertion criteria provided | Cushing syndrome |
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Detail |
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no assertion provided | McCune-Albright syndrome |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.120 | Sex cord-stromal tumor | NA | CLINVAR | Detail | |
0.371 | McCune-Albright syndrome | NA | CLINVAR | Detail | |
0.243 | Growth Hormone-Secreting Pituitary Adenoma | NA | CLINVAR | Detail | |
0.371 | McCune-Albright syndrome | Activating mutations of the stimulatory G protein in the McCune-Albright syndrom... | UNIPROT | 1944469 | Detail |
0.240 | ACTH-independent macronodular adrenal hyperplasia | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000516.7(GNAS):c.601C>A (p.Arg201Ser) AND PITUITARY TUMOR 3, GROWTH HORMONE-SECRETING, SOMATIC | ClinVar | Detail |
NM_000516.7(GNAS):c.601C>A (p.Arg201Ser) AND Polyostotic fibrous dysplasia, somatic, mosaic | ClinVar | Detail |
NM_000516.7(GNAS):c.601C>A (p.Arg201Ser) AND Cushing syndrome | ClinVar | Detail |
NM_000516.7(GNAS):c.601C>A (p.Arg201Ser) AND McCune-Albright syndrome | ClinVar | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. | DisGeNET | Detail |
NA | DisGeNET | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
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Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs11554273 dbSNP
- Genome
- hg38
- Position
- chr20:58,909,365-58,909,365
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
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