chr1:196676018:G>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	chr1:196,645,148-196,645,148 View the variant detail on this assembly version.
hg38	chr1:196,676,018-196,676,018

HGVS

CFH

Type	Transcript	Protein
RefSeq	NM_000186.3:c.380G>T	NP_000177.2:p.Arg127Leu
	NM_001014975.2:c.380G>T	NP_001014975.1:p.Arg127Leu
Ensemble	ENST00000359637.3:c.380G>T	ENST00000359637.3:p.Arg127Leu
	ENST00000367429.9:c.380G>T	ENST00000367429.9:p.Arg127Leu
	ENST00000630130.2:c.380G>T	ENST00000630130.2:p.Arg127Leu
	ENST00000695968.1:c.245-1458G>T
	ENST00000695969.1:c.380G>T	ENST00000695969.1:p.Arg127Leu
	ENST00000695970.1:c.380G>T	ENST00000695970.1:p.Arg127Leu
	ENST00000695971.1:c.380G>T	ENST00000695971.1:p.Arg127Leu
	ENST00000695974.1:c.380G>T	ENST00000695974.1:p.Arg127Leu
	ENST00000695976.1:c.191G>T	ENST00000695976.1:p.Arg64Leu
	ENST00000695978.1:c.380G>T	ENST00000695978.1:p.Arg127Leu
	ENST00000695979.1:c.380G>T	ENST00000695979.1:p.Arg127Leu
	ENST00000695981.1:c.380G>T	ENST00000695981.1:p.Arg127Leu
	ENST00000695984.1:c.244+2855G>T
	ENST00000695987.1:c.191G>T	ENST00000695987.1:p.Arg64Leu
	ENST00000696023.1:c.380G>T	ENST00000696023.1:p.Arg127Leu
	ENST00000696027.1:c.380G>T	ENST00000696027.1:p.Arg127Leu
	ENST00000696028.1:c.380G>T	ENST00000696028.1:p.Arg127Leu
	ENST00000696029.1:c.380G>T	ENST00000696029.1:p.Arg127Leu
	ENST00000696030.1:c.380G>T	ENST00000696030.1:p.Arg127Leu

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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2004-03-01	no assertion criteria provided	Factor H deficiency	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.380G>T (p.Arg127Leu) AND Factor H deficiency	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: rs121913058 dbSNP
Genome: hg38
Position: chr1:196,676,018-196,676,018
Variant Type: snv
Reference Allele: G
Alternative Allele: T

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