chr1:196673002:GAAA> Detail (hg38) (CFH)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:196,642,132-196,642,135 |
hg38 | chr1:196,673,002-196,673,005 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000186.3:c.83_86delGAAA | NP_000177.2:p.Arg28IlefsTer5 |
NM_001014975.2:c.83_86delGAAA | NP_001014975.1:p.Arg28IlefsTer5 | |
Ensemble | ENST00000359637.3:c.83_86delGAAA | ENST00000359637.3:p.Arg28IlefsTer5 |
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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1998-04-01 | 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.83_86del (p.Arg28fs) 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
- rs796052137 dbSNP
- Genome
- hg38
- Position
- chr1:196,673,002-196,673,005
- Variant Type
- snv
- Reference Allele
- GAAA
- Alternative Allele
- -
Genome browser