chr6:31950687:A>G Detail (hg38) (CFB)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr6:31,918,464-31,918,464 View the variant detail on this assembly version. |
hg38 | chr6:31,950,687-31,950,687 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001710.5:c.1693A>G | NP_001701.2:p.Lys565Glu |
Ensemble | ENST00000425368.7:c.1693A>G | ENST00000425368.7:p.Lys565Glu |
ENST00000483004.2:c.1477A>G | ENST00000483004.2:p.Lys493Glu |
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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2018-01-12 | criteria provided, single submitter | Atypical hemolytic-uremic syndrome with B factor anomaly |
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Detail |
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2018-01-12 | criteria provided, single submitter | macular degeneration |
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Detail |
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2024-01-31 | criteria provided, single submitter | not provided |
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Detail |
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2022-07-08 | criteria provided, single submitter | atypical hemolytic-uremic syndrome |
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Detail |
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2019-04-01 | criteria provided, single submitter | CFB-related disorder |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.292 | age related macular degeneration | No association with AMD was found for SNP rs9332739 (E318D) in the C2 gene or fo... | BeFree | 18806293 | Detail |
0.012 | Diabetes Mellitus, Insulin-Dependent | Markers rs4151659 (mapping to CFB) and rs7762619 (mapping 5' of LTA) were the mo... | BeFree | 20054343 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001710.6(CFB):c.1693A>G (p.Lys565Glu) AND Atypical hemolytic-uremic syndrome with B factor anomal... | ClinVar | Detail |
NM_001710.6(CFB):c.1693A>G (p.Lys565Glu) AND Macular degeneration | ClinVar | Detail |
NM_001710.6(CFB):c.1693A>G (p.Lys565Glu) AND not provided | ClinVar | Detail |
NM_001710.6(CFB):c.1693A>G (p.Lys565Glu) AND Atypical hemolytic-uremic syndrome | ClinVar | Detail |
NM_001710.6(CFB):c.1693A>G (p.Lys565Glu) AND CFB-related disorder | ClinVar | Detail |
No association with AMD was found for SNP rs9332739 (E318D) in the C2 gene or for rs4151667 (L9H), r... | DisGeNET | Detail |
Markers rs4151659 (mapping to CFB) and rs7762619 (mapping 5' of LTA) were the most strongly associat... | 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
- rs4151659 dbSNP
- Genome
- hg38
- Position
- chr6:31,950,687-31,950,687
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- East Asian Chromosome Counts (ExAC)
- 8518
- 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)
- 116164
- Allele Counts in All Race (ExAC)
- 1248
- Heterozygous Counts in All Race (ExAC)
- 1204
- Homozygous Counts in All Race (ExAC)
- 22
- Allele Frequency in All Race (ExAC)
- 0.01074343170001033
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