chr1:196709833:C>T 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	chr1:196,709,833-196,709,833
hg38	chr1:196,740,703-196,740,703 View the variant detail on this assembly version.

HGVS

CFH

Type	Transcript	Protein
RefSeq	NM_000186.3:c.2867C>T	NP_000177.2:p.Thr956Met
Ensemble	ENST00000696029.1:c.2867C>T	ENST00000696029.1:p.Thr956Met
	ENST00000696027.1:c.2861C>T	ENST00000696027.1:p.Thr954Met
	ENST00000696028.1:c.2867C>T	ENST00000696028.1:p.Thr956Met
	ENST00000695976.1:c.2678C>T	ENST00000695976.1:p.Thr893Met
	ENST00000695970.1:c.2783-1172C>T
	ENST00000367429.9:c.2867C>T	ENST00000367429.9:p.Thr956Met
	ENST00000695971.1:c.2846C>T	ENST00000695971.1:p.Thr949Met
	ENST00000695974.1:c.2690C>T	ENST00000695974.1:p.Thr897Met
	ENST00000695981.1:c.2867C>T	ENST00000695981.1:p.Thr956Met
	ENST00000695984.1:c.875C>T	ENST00000695984.1:p.Thr292Met

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	Conflicting classifications of pathogenicity
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
Likely benign	2017-04-27	criteria provided, single submitter	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II	germline	Detail
Likely benign	2017-04-27	criteria provided, single submitter	basal laminar drusen	germline	Detail
Likely benign	2017-04-27	criteria provided, single submitter	Hemolytic uremic syndrome, atypical, susceptibility to, 1	germline	Detail
Likely benign	2017-04-27	criteria provided, single submitter	age related macular degeneration 4	germline	Detail
Benign Likely benign	2024-01-25	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Uncertain significance	2015-06-02	criteria provided, single submitter	Non-immunoglobulin-mediated membranoproliferative glomerulonephritis	germline	Detail
Likely benign	2021-11-16	criteria provided, single submitter	atypical hemolytic-uremic syndrome	germline	Detail
Likely benign	2024-01-26	criteria provided, single submitter	not specified	germline	Detail
Likely benign	2020-02-18	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	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.2867C>T (p.Thr956Met) AND CFH-Related Dense Deposit Disease / Membranoproliferati...	ClinVar	Detail
NM_000186.4(CFH):c.2867C>T (p.Thr956Met) AND Basal laminar drusen	ClinVar	Detail
NM_000186.4(CFH):c.2867C>T (p.Thr956Met) AND Hemolytic uremic syndrome, atypical, susceptibility to,...	ClinVar	Detail
NM_000186.4(CFH):c.2867C>T (p.Thr956Met) AND Age related macular degeneration 4	ClinVar	Detail
NM_000186.4(CFH):c.2867C>T (p.Thr956Met) AND not provided	ClinVar	Detail
NM_000186.4(CFH):c.2867C>T (p.Thr956Met) AND Non-immunoglobulin-mediated membranoproliferative glome...	ClinVar	Detail
NM_000186.4(CFH):c.2867C>T (p.Thr956Met) AND Atypical hemolytic-uremic syndrome	ClinVar	Detail
NM_000186.4(CFH):c.2867C>T (p.Thr956Met) AND not specified	ClinVar	Detail
NM_000186.4(CFH):c.2867C>T (p.Thr956Met) AND CFH-related disorder	ClinVar	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: rs145975787 dbSNP
Genome: hg19
Position: chr1:196,709,833-196,709,833
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8650
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): 121400
Allele Counts in All Race (ExAC): 147
Heterozygous Counts in All Race (ExAC): 147
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 0.0012108731466227347

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