chr1:196716424:CAACTTGTGCAAAAAGATAGAATC> Detail (hg19) (CFH)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr1:196,716,424-196,716,447
hg38	chr1:196,747,294-196,747,317

HGVS

CFH

Type	Transcript	Protein
RefSeq	NM_000186.3:c.3677_*4delCAACTTGTGCAAAAAGATAGAATC	NP_000177.2:p.Pro1226_Asn1233del
Ensemble	ENST00000696029.1:c.3671_*4delCAACTTGTGCAAAAAGATAGAATC	ENST00000696029.1:p.Pro1224_Asn1231del
	ENST00000696027.1:c.3671_*4delCAACTTGTGCAAAAAGATAGAATC	ENST00000696027.1:p.Pro1224_Asn1231del
	ENST00000696028.1:c.3605_*4delCAACTTGTGCAAAAAGATAGAATC	ENST00000696028.1:p.Pro1202_Asn1209del
	ENST00000695970.1:c.3503_*4delCAACTTGTGCAAAAAGATAGAATC	ENST00000695970.1:p.Pro1168_Asn1175del
	ENST00000367429.9:c.3677_*4delCAACTTGTGCAAAAAGATAGAATC	ENST00000367429.9:p.Pro1226_Asn1233del
	ENST00000695976.1:c.3488_*4delCAACTTGTGCAAAAAGATAGAATC	ENST00000695976.1:p.Pro1163_Asn1170del
	ENST00000695971.1:c.3656_*4delCAACTTGTGCAAAAAGATAGAATC	ENST00000695971.1:p.Pro1219_Asn1226del
	ENST00000695974.1:c.3500_*4delCAACTTGTGCAAAAAGATAGAATC	ENST00000695974.1:p.Pro1167_Asn1174del
	ENST00000695981.1:c.3580+97_3580+120delCAACTTGTGCAAAAAGATAGAATC
	ENST00000695984.1:c.1685_*4delCAACTTGTGCAAAAAGATAGAATC	ENST00000695984.1:p.Pro562_Asn569del

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	risk factor
Review star
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Links

CFH

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	2000-05-01	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

Descrption	Source	Links
NM_000186.4(CFH):c.3677_*4del (p.Pro1226_Ter1232delinsXaa) AND Hemolytic uremic syndrome, atypical, ...	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: rs796052136 dbSNP
Genome: hg19
Position: chr1:196,716,424-196,716,447
Variant Type: snv
Reference Allele: CAACTTGTGCAAAAAGATAGAATC
Alternative Allele: -

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