chr1:196716339:G>T Detail (hg19) (CFH)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:196,716,339-196,716,339 |
hg38 | chr1:196,747,209-196,747,209 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000186.3:c.3592G>T | NP_000177.2:p.Glu1198Ter |
Ensemble | ENST00000695971.1:c.3571G>T | ENST00000695971.1:p.Glu1191Ter |
ENST00000695974.1:c.3415G>T | ENST00000695974.1:p.Glu1139Ter |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2008-06-01 | no assertion criteria provided | Hemolytic uremic syndrome, atypical, susceptibility to, 1 |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.320 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000186.4(CFH):c.3592G>T (p.Glu1198Ter) AND Hemolytic uremic syndrome, atypical, susceptibility to... | 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
- rs121913063 dbSNP
- Genome
- hg19
- Position
- chr1:196,716,339-196,716,339
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
Genome browser