chr1:196646743:G>A Detail (hg19) (CFH)

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

Information

Genome

Assembly	Position
hg19	chr1:196,646,743-196,646,743
hg38	chr1:196,677,613-196,677,613 View the variant detail on this assembly version.

HGVS

CFH

Type	Transcript	Protein
RefSeq	NM_001014975.2:c.565G>A	NP_001014975.1:p.Glu189Lys
	NM_000186.3:c.565G>A	NP_000177.2:p.Glu189Lys
Ensemble	ENST00000696027.1:c.565G>A	ENST00000696027.1:p.Glu189Lys
	ENST00000630130.2:c.565G>A	ENST00000630130.2:p.Glu189Lys
	ENST00000696023.1:c.565G>A	ENST00000696023.1:p.Glu189Lys
	ENST00000696029.1:c.565G>A	ENST00000696029.1:p.Glu189Lys
	ENST00000695978.1:c.565G>A	ENST00000695978.1:p.Glu189Lys
	ENST00000695987.1:c.376G>A	ENST00000695987.1:p.Glu126Lys
	ENST00000696028.1:c.565G>A	ENST00000696028.1:p.Glu189Lys
	ENST00000695968.1:c.382G>A	ENST00000695968.1:p.Glu128Lys
	ENST00000696030.1:c.565G>A	ENST00000696030.1:p.Glu189Lys
	ENST00000695974.1:c.565G>A	ENST00000695974.1:p.Glu189Lys
	ENST00000695969.1:c.565G>A	ENST00000695969.1:p.Glu189Lys
	ENST00000695971.1:c.565G>A	ENST00000695971.1:p.Glu189Lys
	ENST00000695979.1:c.565G>A	ENST00000695979.1:p.Glu189Lys
	ENST00000695970.1:c.565G>A	ENST00000695970.1:p.Glu189Lys
	ENST00000367429.9:c.565G>A	ENST00000367429.9:p.Glu189Lys
	ENST00000695976.1:c.376G>A	ENST00000695976.1:p.Glu126Lys
	ENST00000359637.3:c.427+1548G>A
	ENST00000695984.1:c.244+4450G>A
	ENST00000695981.1:c.565G>A	ENST00000695981.1:p.Glu189Lys

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Uncertain significance
Review star
Show details

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
Uncertain significance	2023-05-01	criteria provided, single submitter	not provided	germline	Detail
Uncertain significance	2022-04-06	criteria provided, single submitter	age related macular degeneration 4,basal laminar drusen,Factor H deficiency,Hemolytic uremic syndrome, atypical, susceptibility to, 1	unknown	Detail
Uncertain significance	2022-04-06	criteria provided, single submitter	age related macular degeneration 4,basal laminar drusen,Factor H deficiency,Hemolytic uremic syndrome, atypical, susceptibility to, 1	unknown	Detail
Uncertain significance	2022-04-06	criteria provided, single submitter	age related macular degeneration 4,basal laminar drusen,Factor H deficiency,Hemolytic uremic syndrome, atypical, susceptibility to, 1	unknown	Detail
Uncertain significance	2022-04-06	criteria provided, single submitter	age related macular degeneration 4,basal laminar drusen,Factor H deficiency,Hemolytic uremic syndrome, atypical, susceptibility to, 1	unknown	Detail
Uncertain significance	2023-04-11	criteria provided, single submitter	Hemolytic uremic syndrome, atypical, susceptibility to, 1	germline	Detail
Uncertain significance	2023-04-11	criteria provided, single submitter	Factor H deficiency	germline	Detail
Uncertain significance	2023-04-11	criteria provided, single submitter	basal laminar drusen	germline	Detail
Uncertain significance	2023-04-11	criteria provided, single submitter	age related macular degeneration 4	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.482	Complement Factor H Deficiency	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000186.4(CFH):c.565G>A (p.Glu189Lys) AND not provided	ClinVar	Detail
NM_000186.4(CFH):c.565G>A (p.Glu189Lys) AND multiple conditions	ClinVar	Detail
NM_000186.4(CFH):c.565G>A (p.Glu189Lys) AND multiple conditions	ClinVar	Detail
NM_000186.4(CFH):c.565G>A (p.Glu189Lys) AND multiple conditions	ClinVar	Detail
NM_000186.4(CFH):c.565G>A (p.Glu189Lys) AND multiple conditions	ClinVar	Detail
NM_000186.4(CFH):c.565G>A (p.Glu189Lys) AND Hemolytic uremic syndrome, atypical, susceptibility to, ...	ClinVar	Detail
NM_000186.4(CFH):c.565G>A (p.Glu189Lys) AND Factor H deficiency	ClinVar	Detail
NM_000186.4(CFH):c.565G>A (p.Glu189Lys) AND Basal laminar drusen	ClinVar	Detail
NM_000186.4(CFH):c.565G>A (p.Glu189Lys) AND Age related macular degeneration 4	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: rs121913054 dbSNP
Genome: hg19
Position: chr1:196,646,743-196,646,743
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8612
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 121120
Allele Counts in All Race (ExAC): 5
Heterozygous Counts in All Race (ExAC): 5
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 4.128137384412153E-5

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