chr13:110818598:T>A Detail (hg19) (COL4A1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr13:110,818,598-110,818,598 |
hg38 | chr13:110,166,251-110,166,251 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001845.5:c.4002A>T | NP_001836.3:p.Gln1334His |
Ensemble | ENST00000375820.10:c.4002A>T | ENST00000375820.10:p.Gln1334His |
ENST00000650424.2:c.4002A>T | ENST00000650424.2:p.Gln1334His |
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 |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2022-03-18 | criteria provided, single submitter | not provided |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
<0.001 | Hypercholesterolemia | Further examination by multivariable logistic regression analysis with adjustmen... | BeFree | 18077766 | Detail |
0.002 | Mental disorders | [A genome-wide association study identified a SNP in the COL4A1 gene that was si... | GAD | 20031579 | Detail |
<0.001 | Hypercholesterolemia | Further examination by multivariable logistic regression analysis with adjustmen... | BeFree | 18077766 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001845.6(COL4A1):c.4002A>T (p.Gln1334His) AND not provided | ClinVar | Detail |
Further examination by multivariable logistic regression analysis with adjustment for age, sex, body... | DisGeNET | Detail |
[A genome-wide association study identified a SNP in the COL4A1 gene that was significantly associat... | DisGeNET | Detail |
Further examination by multivariable logistic regression analysis with adjustment for age, sex, body... | 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
- chr13:110,818,598-110,818,598
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8648
- 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)
- 121398
- Allele Counts in All Race (ExAC)
- 3
- Heterozygous Counts in All Race (ExAC)
- 2
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 2.4712103988533584E-5
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