chr1:196648804:AGA> 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	chr1:196,648,804-196,648,806
hg38	chr1:196,679,674-196,679,676

HGVS

CFH

Type	Transcript	Protein
RefSeq	NM_001014975.2:c.671_673delAGA	NP_001014975.1:p.Lys224del
	NM_000186.3:c.671_673delAGA	NP_000177.2:p.Lys224del
Ensemble	ENST00000696027.1:c.671_673delAGA	ENST00000696027.1:p.Lys224del
	ENST00000695987.1:c.482_484delAGA	ENST00000695987.1:p.Lys161del
	ENST00000695978.1:c.671_673delAGA	ENST00000695978.1:p.Lys224del
	ENST00000696029.1:c.671_673delAGA	ENST00000696029.1:p.Lys224del
	ENST00000696023.1:c.671_673delAGA	ENST00000696023.1:p.Lys224del
	ENST00000630130.2:c.671_673delAGA	ENST00000630130.2:p.Lys224del
	ENST00000696028.1:c.671_673delAGA	ENST00000696028.1:p.Lys224del
	ENST00000695968.1:c.488_490delAGA	ENST00000695968.1:p.Lys163del
	ENST00000696030.1:c.671_673delAGA	ENST00000696030.1:p.Lys224del
	ENST00000695979.1:c.671_673delAGA	ENST00000695979.1:p.Lys224del
	ENST00000695974.1:c.671_673delAGA	ENST00000695974.1:p.Lys224del
	ENST00000695969.1:c.671_673delAGA	ENST00000695969.1:p.Lys224del
	ENST00000695971.1:c.671_673delAGA	ENST00000695971.1:p.Lys224del
	ENST00000695976.1:c.482_484delAGA	ENST00000695976.1:p.Lys161del
	ENST00000367429.9:c.671_673delAGA	ENST00000367429.9:p.Lys224del
	ENST00000695970.1:c.671_673delAGA	ENST00000695970.1:p.Lys224del
	ENST00000695984.1:c.244+6511_244+6513delAGA
	ENST00000359637.3:c.479_481delAGA	ENST00000359637.3:p.Lys160del
	ENST00000695981.1:c.671_673delAGA	ENST00000695981.1:p.Lys224del

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
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

[No Data.]

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
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: rs796052138 dbSNP
Genome: hg19
Position: chr1:196,648,804-196,648,806
Variant Type: snv
Reference Allele: AGA
Alternative Allele: -

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