Annotation Detail
Information
- Associated Genes
- CFH
- Associated Variants
-
ENSG00000289697 c.3580+97_3580+120delCAACTTGTGCAAAAAGATAGAATC, CFH p.Pro1226_Asn1233del (p.P1226_N1233del)
(
ENST00000696029.1,
ENST00000696027.1,
ENST00000696028.1,
ENST00000695970.1,
ENST00000367429.9,
ENST00000695976.1,
ENST00000695971.1,
ENST00000695974.1,
ENST00000695981.1,
ENST00000695984.1 )
ENSG00000289697 c.3580+97_3580+120delCAACTTGTGCAAAAAGATAGAATC, CFH p.Pro1226_Asn1233del (p.P1226_N1233del) ( ENST00000367429.9, ENST00000695970.1, ENST00000695971.1, ENST00000695974.1, ENST00000695976.1, ENST00000695981.1, ENST00000695984.1, ENST00000696027.1, ENST00000696028.1, ENST00000696029.1 ) - Associated Disease
- Hemolytic uremic syndrome, atypical, susceptibility to, 1
- Source Database
- ClinVar
- Description
- NM_000186.4(CFH):c.3677_*4del (p.Pro1226_Ter1232delinsXaa) AND Hemolytic uremic syndrome, atypical, susceptibility to, 1
- ClinVar Allele ID
- 31585
- ClinVar RefSeq Alternation Syntax
- NM_000186.4:c.3677_*4del
- Clinical Significance Description
- risk factor
- Clinical Significance Last Update
- 2000-05-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000018012
- ClinVar Disease
- Hemolytic uremic syndrome, atypical, susceptibility to, 1
- Observed Origin Sample
- germline
- Pubmed
- 9811382
- Pubmed
- 10577907
- Pubmed
- 10762557
Drugs