chr3:184091301:C>T Detail (hg19) (THPO)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:184,091,301-184,091,301 |
hg38 | chr3:184,373,513-184,373,513 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001177597.2:c.298G>A | NP_001171068.1:p.Gly100Arg |
NM_001177598.2:c.298G>A | NP_001171069.1:p.Gly100Arg | |
NM_001290022.1:c.298G>A | NP_001276951.1:p.Gly100Arg |
Summary
MGeND
Clinical significance | |
Variant entry | |
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 | |
Review star | [No Data.] |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
<0.001 | Graves Disease | Although there is not association between ICAM1 (G241R and K469E), VCAM1 (T-1591... | BeFree | 23242661 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
Although there is not association between ICAM1 (G241R and K469E), VCAM1 (T-1591C and T-833C), and E... | 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
- -
- Genome
- hg19
- Position
- chr3:184,091,301-184,091,301
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Allele Frequency (ExAC)
- 0.0
- East Asian Chromosome Counts (ExAC)
- 8646
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- Chromosome Counts in All Race (ExAC)
- 121110
- Allele Counts in All Race (ExAC)
- 3
- Heterozygous Counts in All Race (ExAC)
- 3
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 2.4770869457517957E-5
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