chr1:196743552: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	chr1:196,712,682-196,712,682 View the variant detail on this assembly version.
hg38	chr1:196,743,552-196,743,552

HGVS

CFH

Type	Transcript	Protein
RefSeq	NM_000186.3:c.3234G>T	NP_000177.2:p.Arg1078Ser
Ensemble	ENST00000367429.9:c.3234G>T	ENST00000367429.9:p.Arg1078Ser
	ENST00000695970.1:c.3060G>T	ENST00000695970.1:p.Arg1020Ser
	ENST00000695971.1:c.3213G>T	ENST00000695971.1:p.Arg1071Ser
	ENST00000695974.1:c.3057G>T	ENST00000695974.1:p.Arg1019Ser
	ENST00000695976.1:c.3045G>T	ENST00000695976.1:p.Arg1015Ser
	ENST00000695981.1:c.3234G>T	ENST00000695981.1:p.Arg1078Ser
	ENST00000695984.1:c.1242G>T	ENST00000695984.1:p.Arg414Ser
	ENST00000696027.1:c.3228G>T	ENST00000696027.1:p.Arg1076Ser
	ENST00000696028.1:c.3162G>T	ENST00000696028.1:p.Arg1054Ser
	ENST00000696029.1:c.3228G>T	ENST00000696029.1:p.Arg1076Ser

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	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
Pathogenic	2008-02-01	no assertion criteria provided	basal laminar drusen	germline	Detail
Uncertain significance	2022-10-24	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.241	BASAL LAMINAR DRUSEN (disorder)	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000186.4(CFH):c.3234G>T (p.Arg1078Ser) AND Basal laminar drusen	ClinVar	Detail
NM_000186.4(CFH):c.3234G>T (p.Arg1078Ser) AND not provided	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: rs121913062 dbSNP
Genome: hg38
Position: chr1:196,743,552-196,743,552
Variant Type: snv
Reference Allele: G
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8654
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): 121412
Allele Counts in All Race (ExAC): 7
Heterozygous Counts in All Race (ExAC): 7
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 5.765492702533522E-5

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