chr16:2075833:T>C Detail (hg38) (TSC2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr16:2,125,834-2,125,834 View the variant detail on this assembly version. |
hg38 | chr16:2,075,833-2,075,833 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000548.4:c.2580T>C | NP_000539.2:p.Phe860= |
NM_001114382.2:c.2580T>C | NP_001107854.1:p.Phe860= | |
NM_001318829.1:c.2433T>C | NP_001305758.1:p.Phe811= |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:<0.001 |
ToMMo:[No Data.] | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:0.002 |
Prediction
ClinVar
Clinical Significance |
![]() |
Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
![]() |
2024-02-05 | criteria provided, multiple submitters, no conflicts | Tuberous sclerosis syndrome |
![]() |
Detail |
![]() |
no assertion provided | Lymphangiomyomatosis |
![]() |
Detail | |
![]() |
2014-10-16 | criteria provided, multiple submitters, no conflicts | not specified |
![]() |
Detail |
![]() |
2014-11-19 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
![]() |
Detail |
![]() |
2024-02-01 | criteria provided, multiple submitters, no conflicts | tuberous sclerosis 2 |
![]() |
Detail |
![]() |
2023-11-30 | criteria provided, multiple submitters, no conflicts | not provided |
![]() |
Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
<0.001 | gastroesophageal reflux disease | In subsequent logistic regression analyses, interactions between 2 SNPs (rs22957... | BeFree | 21751195 | Detail |
<0.001 | Adenocarcinoma Of Esophagus | In subsequent logistic regression analyses, interactions between 2 SNPs (rs22957... | BeFree | 21751195 | Detail |
<0.001 | Adenocarcinoma Of Esophagus | In subsequent logistic regression analyses, interactions between 2 SNPs (rs22957... | BeFree | 21751195 | Detail |
<0.001 | Adenocarcinoma Of Esophagus | In subsequent logistic regression analyses, interactions between 2 SNPs (rs22957... | BeFree | 21751195 | Detail |
<0.001 | gastroesophageal reflux disease | In subsequent logistic regression analyses, interactions between 2 SNPs (rs22957... | BeFree | 21751195 | Detail |
<0.001 | gastroesophageal reflux disease | In subsequent logistic regression analyses, interactions between 2 SNPs (rs22957... | BeFree | 21751195 | Detail |
<0.001 | Adenocarcinoma Of Esophagus | In subsequent logistic regression analyses, interactions between 2 SNPs (rs22957... | BeFree | 21751195 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000548.5(TSC2):c.2580T>C (p.Phe860=) AND Tuberous sclerosis syndrome | ClinVar | Detail |
NM_000548.5(TSC2):c.2580T>C (p.Phe860=) AND Lymphangiomyomatosis | ClinVar | Detail |
NM_000548.5(TSC2):c.2580T>C (p.Phe860=) AND not specified | ClinVar | Detail |
NM_000548.5(TSC2):c.2580T>C (p.Phe860=) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000548.5(TSC2):c.2580T>C (p.Phe860=) AND Tuberous sclerosis 2 | ClinVar | Detail |
NM_000548.5(TSC2):c.2580T>C (p.Phe860=) AND not provided | ClinVar | Detail |
In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs1333... | DisGeNET | Detail |
In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs1333... | DisGeNET | Detail |
In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs1333... | DisGeNET | Detail |
In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs1333... | DisGeNET | Detail |
In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs1333... | DisGeNET | Detail |
In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs1333... | DisGeNET | Detail |
In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs1333... | 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
- rs13337626 dbSNP
- Genome
- hg38
- Position
- chr16:2,075,833-2,075,833
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- Filtering Status (HGVD)
- PASS
- Filtering Status (HGVD)
- LowQual
- # of samples (HGVD)
- 1189
- Mean of sample read depth (HGVD)
- 37.33
- Standard deviation of sample read depth (HGVD)
- 26.52
- Number of reference allele (HGVD)
- 2377
- Number of alternative allele (HGVD)
- 1
- Allele Frequency (HGVD)
- 4.2052144659377626E-4
- Gene Symbol (HGVD)
- TSC2
- East Asian Chromosome Counts (ExAC)
- 8600
- East Asian Allele Counts (ExAC)
- 13
- East Asian Heterozygous Counts (ExAC)
- 13
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0015116279069767441
- Chromosome Counts in All Race (ExAC)
- 119772
- Allele Counts in All Race (ExAC)
- 8679
- Heterozygous Counts in All Race (ExAC)
- 7899
- Homozygous Counts in All Race (ExAC)
- 390
- Allele Frequency in All Race (ExAC)
- 0.07246267909027151
Genome browser