chr1:196654324:A>C Detail (hg19) (CFH)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:196,654,324-196,654,324 |
| hg38 | chr1:196,685,194-196,685,194 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000186.3:c.921A>C | NP_000177.2:p.Ala307= |
| NM_001014975.2:c.921A>C | NP_001014975.1:p.Ala307= | |
| Ensemble | ENST00000359637.3:c.729A>C | ENST00000359637.3:p.Ala243= |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.943 |
| ToMMo:0.933 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.951 |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
2021-07-22 | criteria provided, multiple submitters, no conflicts | age related macular degeneration 4 |
germline
|
Detail |
|
Benign
|
2021-07-22 | criteria provided, multiple submitters, no conflicts | basal laminar drusen |
germline
|
Detail |
|
Benign
|
2017-04-27 | criteria provided, single submitter | CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II |
germline
|
Detail |
|
Benign
|
2021-07-22 | criteria provided, multiple submitters, no conflicts | Hemolytic uremic syndrome, atypical, susceptibility to, 1 |
germline
|
Detail |
|
Benign
|
2024-02-01 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Benign
|
2021-07-22 | criteria provided, single submitter | Factor H deficiency |
germline
|
Detail |
|
Benign
|
2022-10-05 | criteria provided, single submitter | atypical hemolytic-uremic syndrome |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.480 | age related macular degeneration | GWAS meta-analysis confirmed previously reported association of variants at the ... | GWASCAT | 23326517 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000186.4(CFH):c.921A>C (p.Ala307=) AND Age related macular degeneration 4 | ClinVar | Detail |
| NM_000186.4(CFH):c.921A>C (p.Ala307=) AND Basal laminar drusen | ClinVar | Detail |
| NM_000186.4(CFH):c.921A>C (p.Ala307=) AND CFH-Related Dense Deposit Disease / Membranoproliferative ... | ClinVar | Detail |
| NM_000186.4(CFH):c.921A>C (p.Ala307=) AND Hemolytic uremic syndrome, atypical, susceptibility to, 1 | ClinVar | Detail |
| NM_000186.4(CFH):c.921A>C (p.Ala307=) AND not provided | ClinVar | Detail |
| NM_000186.4(CFH):c.921A>C (p.Ala307=) AND Factor H deficiency | ClinVar | Detail |
| NM_000186.4(CFH):c.921A>C (p.Ala307=) AND Atypical hemolytic-uremic syndrome | ClinVar | Detail |
| GWAS meta-analysis confirmed previously reported association of variants at the complement factor H ... | 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
- rs1061147 dbSNP
- Genome
- hg19
- Position
- chr1:196,654,324-196,654,324
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1174
- Mean of sample read depth (HGVD)
- 73.59
- Standard deviation of sample read depth (HGVD)
- 38.72
- Number of reference allele (HGVD)
- 133
- Number of alternative allele (HGVD)
- 2212
- Allele Frequency (HGVD)
- 0.9432835820895522
- Gene Symbol (HGVD)
- CFH
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs1061147
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.9332
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 15641
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8630
- East Asian Allele Counts (ExAC)
- 8207
- East Asian Heterozygous Counts (ExAC)
- 395
- East Asian Homozygous Counts (ExAC)
- 3906
- East Asian Allele Frequency (ExAC)
- 0.9509849362688296
- Chromosome Counts in All Race (ExAC)
- 121250
- Allele Counts in All Race (ExAC)
- 80828
- Heterozygous Counts in All Race (ExAC)
- 25444
- Homozygous Counts in All Race (ExAC)
- 27692
- Allele Frequency in All Race (ExAC)
- 0.6666226804123712
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