chr20:57484420:C>G Detail (hg19) (GNAS)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr20:57,484,420-57,484,420 |
hg38 | chr20:58,909,365-58,909,365 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_016592.3:c.*507C>G | |
NM_080426.3:c.559C>G | NP_536351.1:p.Arg187Gly | |
NM_001077488.3:c.604C>G | NP_001070956.1:p.Arg202Gly |
Summary
MGeND
Clinical significance |
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Variant entry | 1 |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:[No Data.] | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:<0.001 |
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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bronchus or lung, unspecified |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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1999-11-01 | no assertion criteria 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>G (p.Arg201Gly) 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 |
---|
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs11554273 dbSNP
- Genome
- hg19
- Position
- chr20:57,484,420-57,484,420
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
- East Asian Chromosome Counts (ExAC)
- 8652
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 121390
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.237910865804433E-6
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