chr20:58909542:G>C Detail (hg38) (GNAS)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr20:57,484,597-57,484,597 View the variant detail on this assembly version. |
hg38 | chr20:58,909,542-58,909,542 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001077489.3:c.636G>C | NP_001070957.1:p.Gln212His |
NM_001309840.1:c.*584G>C | ||
NM_001309861.1:c.*584G>C |
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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1995-02-01 | no assertion criteria provided | Pituitary adenoma 3, multiple types |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.371 | McCune-Albright syndrome | NA | CLINVAR | Detail | |
0.120 | pituitary-dependent Cushing's disease | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000516.7(GNAS):c.681G>C (p.Gln227His) AND Pituitary adenoma 3, multiple types | ClinVar | Detail |
NA | 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
- rs137854533 dbSNP
- Genome
- hg38
- Position
- chr20:58,909,542-58,909,542
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
Genome browser