chr1:196716337:T>C 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	chr1:196,716,337-196,716,337
hg38	chr1:196,747,207-196,747,207 View the variant detail on this assembly version.

HGVS

CFH

Type	Transcript	Protein
RefSeq	NM_000186.3:c.3590T>C	NP_000177.2:p.Val1197Ala
Ensemble	ENST00000695981.1:c.3580+10T>C
	ENST00000695984.1:c.1598T>C	ENST00000695984.1:p.Val533Ala
	ENST00000695976.1:c.3401T>C	ENST00000695976.1:p.Val1134Ala
	ENST00000367429.9:c.3590T>C	ENST00000367429.9:p.Val1197Ala
	ENST00000695970.1:c.3416T>C	ENST00000695970.1:p.Val1139Ala
	ENST00000695971.1:c.3569T>C	ENST00000695971.1:p.Val1190Ala
	ENST00000695974.1:c.3413T>C	ENST00000695974.1:p.Val1138Ala
	ENST00000696028.1:c.3518T>C	ENST00000696028.1:p.Val1173Ala
	ENST00000696029.1:c.3584T>C	ENST00000696029.1:p.Val1195Ala
	ENST00000696027.1:c.3584T>C	ENST00000696027.1:p.Val1195Ala

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely 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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2019-08-23	criteria provided, single submitter	Hemolytic uremic syndrome, atypical, susceptibility to, 1	unknown	Detail
Pathogenic Likely pathogenic	2022-08-01	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Likely pathogenic	2022-04-19	criteria provided, single submitter	Factor H deficiency,basal laminar drusen,Hemolytic uremic syndrome, atypical, susceptibility to, 1,age related macular degeneration 4	unknown	Detail
Likely pathogenic	2022-04-19	criteria provided, single submitter	Factor H deficiency,basal laminar drusen,Hemolytic uremic syndrome, atypical, susceptibility to, 1,age related macular degeneration 4	unknown	Detail
Likely pathogenic	2022-04-19	criteria provided, single submitter	Factor H deficiency,basal laminar drusen,Hemolytic uremic syndrome, atypical, susceptibility to, 1,age related macular degeneration 4	unknown	Detail
Likely pathogenic	2022-04-19	criteria provided, single submitter	Factor H deficiency,basal laminar drusen,Hemolytic uremic syndrome, atypical, susceptibility to, 1,age related macular degeneration 4	unknown	Detail
Likely pathogenic	2023-04-11	criteria provided, single submitter	Factor H deficiency	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
0.320	Hemolytic uremic syndrome, atypical, susceptibility to, 1	Clustering of missense mutations in the C-terminal region of factor H in atypica...	UNIPROT	11170895	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000186.4(CFH):c.3590T>C (p.Val1197Ala) AND Hemolytic uremic syndrome, atypical, susceptibility to...	ClinVar	Detail
NM_000186.4(CFH):c.3590T>C (p.Val1197Ala) AND not provided	ClinVar	Detail
NM_000186.4(CFH):c.3590T>C (p.Val1197Ala) AND multiple conditions	ClinVar	Detail
NM_000186.4(CFH):c.3590T>C (p.Val1197Ala) AND multiple conditions	ClinVar	Detail
NM_000186.4(CFH):c.3590T>C (p.Val1197Ala) AND multiple conditions	ClinVar	Detail
NM_000186.4(CFH):c.3590T>C (p.Val1197Ala) AND multiple conditions	ClinVar	Detail
NM_000186.4(CFH):c.3590T>C (p.Val1197Ala) AND Factor H deficiency	ClinVar	Detail
NA	DisGeNET	Detail
Clustering of missense mutations in the C-terminal region of factor H in atypical hemolytic uremic s...	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: rs460184 dbSNP
Genome: hg19
Position: chr1:196,716,337-196,716,337
Variant Type: snv
Reference Allele: T
Alternative Allele: C

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