chr1:196747183:T>G Detail (hg38) (CFH)

Information

Genome

Assembly Position
hg19 chr1:196,716,313-196,716,313 View the variant detail on this assembly version.
hg38 chr1:196,747,183-196,747,183

HGVS

Type Transcript Protein
RefSeq NM_000186.3:c.3566T>G NP_000177.2:p.Leu1189Arg
Ensemble ENST00000367429.9:c.3566T>G ENST00000367429.9:p.Leu1189Arg
ENST00000695970.1:c.3392T>G ENST00000695970.1:p.Leu1131Arg
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance risk factor
Review star
Show details
Links
Type Database ID Link
Gene MIM 134370 OMIM
HGNC 4883 HGNC
Ensembl ENSG00000000971 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
risk factor 2001-02-01 no assertion criteria provided Hemolytic uremic syndrome, atypical, susceptibility to, 1 germline 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

DescrptionSourceLinks
NM_000186.4(CFH):c.3566T>G (p.Leu1189Arg) 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
rs121913055 dbSNP
Genome
hg38
Position
chr1:196,747,183-196,747,183
Variant Type
snv
Reference Allele
T
Alternative Allele
G
Genome browser