chr1:196683035:C>G Detail (hg19) (CFH)

Go to:

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

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>G	NP_000177.2:p.Pro503Ala
Ensemble	ENST00000695981.1:c.1507C>G	ENST00000695981.1:p.Pro503Ala
	ENST00000695984.1:c.245-14441C>G
	ENST00000695976.1:c.1318C>G	ENST00000695976.1:p.Pro440Ala
	ENST00000695970.1:c.1507C>G	ENST00000695970.1:p.Pro503Ala
	ENST00000367429.9:c.1507C>G	ENST00000367429.9:p.Pro503Ala
	ENST00000695969.1:c.1507C>G	ENST00000695969.1:p.Pro503Ala
	ENST00000695974.1:c.1507C>G	ENST00000695974.1:p.Pro503Ala
	ENST00000695971.1:c.1486C>G	ENST00000695971.1:p.Pro496Ala
	ENST00000696028.1:c.1507C>G	ENST00000696028.1:p.Pro503Ala
	ENST00000696029.1:c.1507C>G	ENST00000696029.1:p.Pro503Ala
	ENST00000696027.1:c.1507C>G	ENST00000696027.1:p.Pro503Ala

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

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	2023-04-11	criteria provided, single submitter	age related macular degeneration 4	germline	Detail
Uncertain significance	2023-05-27	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Uncertain significance	2020-02-01	criteria provided, single submitter	atypical hemolytic-uremic syndrome	germline	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

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
NM_000186.4(CFH):c.1507C>G (p.Pro503Ala) AND Age related macular degeneration 4	ClinVar	Detail
NM_000186.4(CFH):c.1507C>G (p.Pro503Ala) AND not provided	ClinVar	Detail
NM_000186.4(CFH):c.1507C>G (p.Pro503Ala) AND Atypical hemolytic-uremic syndrome	ClinVar	Detail
NM_000186.4(CFH):c.1507C>G (p.Pro503Ala) AND Hemolytic uremic syndrome, atypical, susceptibility to,...	ClinVar	Detail
NM_000186.4(CFH):c.1507C>G (p.Pro503Ala) AND Factor H deficiency	ClinVar	Detail
NM_000186.4(CFH):c.1507C>G (p.Pro503Ala) AND Basal laminar drusen	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: rs570523689 dbSNP
Genome: hg19
Position: chr1:196,683,035-196,683,035
Variant Type: snv
Reference Allele: C
Alternative Allele: G

Genome browser