chr1:196747189:C>T Detail (hg38) (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	chr1:196,716,319-196,716,319 View the variant detail on this assembly version.
hg38	chr1:196,747,189-196,747,189

HGVS

CFH

Type	Transcript	Protein
RefSeq	NM_000186.3:c.3572C>T	NP_000177.2:p.Ser1191Leu
Ensemble	ENST00000367429.9:c.3572C>T	ENST00000367429.9:p.Ser1191Leu
	ENST00000695970.1:c.3398C>T	ENST00000695970.1:p.Ser1133Leu
	ENST00000695971.1:c.3551C>T	ENST00000695971.1:p.Ser1184Leu
	ENST00000695974.1:c.3395C>T	ENST00000695974.1:p.Ser1132Leu
	ENST00000695976.1:c.3383C>T	ENST00000695976.1:p.Ser1128Leu
	ENST00000695981.1:c.3572C>T	ENST00000695981.1:p.Ser1191Leu
	ENST00000695984.1:c.1580C>T	ENST00000695984.1:p.Ser527Leu
	ENST00000696027.1:c.3566C>T	ENST00000696027.1:p.Ser1189Leu
	ENST00000696028.1:c.3500C>T	ENST00000696028.1:p.Ser1167Leu
	ENST00000696029.1:c.3566C>T	ENST00000696029.1:p.Ser1189Leu

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
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	COSM3480827	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 unknown	Detail
Pathogenic	2022-01-04	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2022-04-19	criteria provided, single submitter	Hemolytic uremic syndrome, atypical, susceptibility to, 1,Factor H deficiency,basal laminar drusen,age related macular degeneration 4	unknown	Detail
Pathogenic	2022-04-19	criteria provided, single submitter	Hemolytic uremic syndrome, atypical, susceptibility to, 1,Factor H deficiency,basal laminar drusen,age related macular degeneration 4	unknown	Detail
Pathogenic	2022-04-19	criteria provided, single submitter	Hemolytic uremic syndrome, atypical, susceptibility to, 1,Factor H deficiency,basal laminar drusen,age related macular degeneration 4	unknown	Detail
Pathogenic	2022-04-19	criteria provided, single submitter	Hemolytic uremic syndrome, atypical, susceptibility to, 1,Factor H deficiency,basal laminar drusen,age related macular degeneration 4	unknown	Detail
Pathogenic	2023-04-11	criteria provided, single submitter	Factor H deficiency	germline	Detail
Pathogenic	2022-04-08	criteria provided, single submitter	CFH-related disorder	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
0.232	Atypical Hemolytic Uremic Syndrome	Renal transplantation in patients with the S1191L mutation of the CFH gene carri...	BeFree	19856002	Detail
0.320	Hemolytic uremic syndrome, atypical, susceptibility to, 1	Complement factor H gene mutation associated with autosomal recessive atypical h...	UNIPROT	10577907	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu) AND Hemolytic uremic syndrome, atypical, susceptibility to...	ClinVar	Detail
NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu) AND not provided	ClinVar	Detail
NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu) AND multiple conditions	ClinVar	Detail
NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu) AND multiple conditions	ClinVar	Detail
NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu) AND multiple conditions	ClinVar	Detail
NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu) AND multiple conditions	ClinVar	Detail
NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu) AND Factor H deficiency	ClinVar	Detail
NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu) AND CFH-related disorder	ClinVar	Detail
NA	DisGeNET	Detail
Renal transplantation in patients with the S1191L mutation of the CFH gene carries a high risk of fa...	DisGeNET	Detail
Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic synd...	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: rs460897 dbSNP
Genome: hg38
Position: chr1:196,747,189-196,747,189
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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