chr1:196683035: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	chr1:196,683,035-196,683,035
hg38	chr1:196,713,905-196,713,905 View the variant detail on this assembly version.

HGVS

CFH

Type	Transcript	Protein
RefSeq	NM_000186.3:c.1507C>T	NP_000177.2:p.Pro503Ser
Ensemble	ENST00000695981.1:c.1507C>T	ENST00000695981.1:p.Pro503Ser
	ENST00000695984.1:c.245-14441C>T
	ENST00000367429.9:c.1507C>T	ENST00000367429.9:p.Pro503Ser
	ENST00000695970.1:c.1507C>T	ENST00000695970.1:p.Pro503Ser
	ENST00000695976.1:c.1318C>T	ENST00000695976.1:p.Pro440Ser
	ENST00000695971.1:c.1486C>T	ENST00000695971.1:p.Pro496Ser
	ENST00000695969.1:c.1507C>T	ENST00000695969.1:p.Pro503Ser
	ENST00000695974.1:c.1507C>T	ENST00000695974.1:p.Pro503Ser
	ENST00000696028.1:c.1507C>T	ENST00000696028.1:p.Pro503Ser
	ENST00000696029.1:c.1507C>T	ENST00000696029.1:p.Pro503Ser
	ENST00000696027.1:c.1507C>T	ENST00000696027.1:p.Pro503Ser

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
0.440	MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)	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: rs570523689 dbSNP
Genome: hg19
Position: chr1:196,683,035-196,683,035
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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