chr1:196646743:G>A Detail (hg19) (CFH)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:196,646,743-196,646,743 |
hg38 | chr1:196,677,613-196,677,613 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001014975.2:c.565G>A | NP_001014975.1:p.Glu189Lys |
NM_000186.3:c.565G>A | NP_000177.2:p.Glu189Lys | |
Ensemble | ENST00000696027.1:c.565G>A | ENST00000696027.1:p.Glu189Lys |
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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2023-05-01 | criteria provided, single submitter | not provided |
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Detail |
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2022-04-06 | criteria provided, single submitter | age related macular degeneration 4,basal laminar drusen,Factor H deficiency,Hemolytic uremic syndrome, atypical, susceptibility to, 1 |
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Detail |
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2022-04-06 | criteria provided, single submitter | age related macular degeneration 4,basal laminar drusen,Factor H deficiency,Hemolytic uremic syndrome, atypical, susceptibility to, 1 |
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Detail |
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2022-04-06 | criteria provided, single submitter | age related macular degeneration 4,basal laminar drusen,Factor H deficiency,Hemolytic uremic syndrome, atypical, susceptibility to, 1 |
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Detail |
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2022-04-06 | criteria provided, single submitter | age related macular degeneration 4,basal laminar drusen,Factor H deficiency,Hemolytic uremic syndrome, atypical, susceptibility to, 1 |
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Detail |
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2023-04-11 | criteria provided, single submitter | Hemolytic uremic syndrome, atypical, susceptibility to, 1 |
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Detail |
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2023-04-11 | criteria provided, single submitter | Factor H deficiency |
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Detail |
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2023-04-11 | criteria provided, single submitter | basal laminar drusen |
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Detail |
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2023-04-11 | criteria provided, single submitter | age related macular degeneration 4 |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.482 | Complement Factor H Deficiency | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000186.4(CFH):c.565G>A (p.Glu189Lys) AND not provided | ClinVar | Detail |
NM_000186.4(CFH):c.565G>A (p.Glu189Lys) AND multiple conditions | ClinVar | Detail |
NM_000186.4(CFH):c.565G>A (p.Glu189Lys) AND multiple conditions | ClinVar | Detail |
NM_000186.4(CFH):c.565G>A (p.Glu189Lys) AND multiple conditions | ClinVar | Detail |
NM_000186.4(CFH):c.565G>A (p.Glu189Lys) AND multiple conditions | ClinVar | Detail |
NM_000186.4(CFH):c.565G>A (p.Glu189Lys) AND Hemolytic uremic syndrome, atypical, susceptibility to, ... | ClinVar | Detail |
NM_000186.4(CFH):c.565G>A (p.Glu189Lys) AND Factor H deficiency | ClinVar | Detail |
NM_000186.4(CFH):c.565G>A (p.Glu189Lys) AND Basal laminar drusen | ClinVar | Detail |
NM_000186.4(CFH):c.565G>A (p.Glu189Lys) AND Age related macular degeneration 4 | ClinVar | 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
- rs121913054 dbSNP
- Genome
- hg19
- Position
- chr1:196,646,743-196,646,743
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8612
- 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)
- 121120
- Allele Counts in All Race (ExAC)
- 5
- Heterozygous Counts in All Race (ExAC)
- 5
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 4.128137384412153E-5
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