chr1:196747245:C>T Detail (hg38) (CFH)

Information

Genome

Assembly Position
hg19 chr1:196,716,375-196,716,375 View the variant detail on this assembly version.
hg38 chr1:196,747,245-196,747,245

HGVS

Type Transcript Protein
RefSeq NM_000186.3:c.3628C>T NP_000177.2:p.Arg1210Cys
Ensemble ENST00000367429.9:c.3628C>T ENST00000367429.9:p.Arg1210Cys
ENST00000695970.1:c.3454C>T ENST00000695970.1:p.Arg1152Cys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
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 tgv4308978 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2015-07-01 no assertion criteria provided Factor H deficiency germline Detail
risk factor 2015-07-01 no assertion criteria provided Hemolytic uremic syndrome, atypical, susceptibility to, 1 germline Detail
Pathogenic 2018-08-09 criteria provided, single submitter age related macular degeneration 4 germline Detail
Uncertain significance 2017-06-16 criteria provided, single submitter CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II germline Detail
Uncertain significance 2017-06-16 criteria provided, single submitter basal laminar drusen germline Detail
Pathogenic 2018-10-25 no assertion criteria provided atypical hemolytic-uremic syndrome unknown Detail
Pathogenic 2022-09-30 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2021-06-30 criteria provided, single submitter Factor H deficiency,age related macular degeneration 4,basal laminar drusen,Hemolytic uremic syndrome, atypical, susceptibility to, 1 unknown Detail
Pathogenic 2021-06-30 criteria provided, single submitter Factor H deficiency,age related macular degeneration 4,basal laminar drusen,Hemolytic uremic syndrome, atypical, susceptibility to, 1 unknown Detail
Pathogenic 2021-06-30 criteria provided, single submitter Factor H deficiency,age related macular degeneration 4,basal laminar drusen,Hemolytic uremic syndrome, atypical, susceptibility to, 1 unknown Detail
Pathogenic 2021-06-30 criteria provided, single submitter Factor H deficiency,age related macular degeneration 4,basal laminar drusen,Hemolytic uremic syndrome, atypical, susceptibility to, 1 unknown Detail
Uncertain significance 2017-01-16 criteria provided, single submitter Kidney disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.320 Hemolytic uremic syndrome, atypical, susceptibility to, 1 NA CLINVAR Detail
0.482 Complement Factor H Deficiency NA CLINVAR Detail
0.009 Kidney Failure, Chronic We report a case of successful single kidney allograft transplantation in a pati... BeFree 19633317 Detail
0.123 age related macular degeneration Three new genetic loci (R1210C in CFH, variants in COL8A1 and RAD51B) are indepe... BeFree 24498017 Detail
0.004 Drusen The typical phenotype of the complement factor H R1210C rare variant is associat... BeFree 25880396 Detail
0.480 age related macular degeneration Phenotypic Characterization of Complement Factor H R1210C Rare Genetic Variant i... BeFree 25880396 Detail
0.121 age related macular degeneration Three new genetic loci (R1210C in CFH, variants in COL8A1 and RAD51B) are indepe... BeFree 24498017 Detail
0.004 Chronic kidney disease stage 5 We report a case of successful single kidney allograft transplantation in a pati... BeFree 19633317 Detail
0.480 age related macular degeneration Three new genetic loci (R1210C in CFH, variants in COL8A1 and RAD51B) are indepe... BeFree 24498017 Detail
<0.001 macular degeneration Three new genetic loci (R1210C in CFH, variants in COL8A1 and RAD51B) are indepe... BeFree 24498017 Detail
0.232 Atypical Hemolytic Uremic Syndrome The complement factor H R1210C mutation is associated with atypical hemolytic ur... BeFree 18235085 Detail
0.011 macular degeneration Three new genetic loci (R1210C in CFH, variants in COL8A1 and RAD51B) are indepe... BeFree 24498017 Detail
<0.001 macular degeneration Three new genetic loci (R1210C in CFH, variants in COL8A1 and RAD51B) are indepe... BeFree 24498017 Detail
0.440 MACULAR DEGENERATION, AGE-RELATED, 4 (disorder) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys) AND Factor H deficiency ClinVar Detail
NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys) AND Hemolytic uremic syndrome, atypical, susceptibility to... ClinVar Detail
NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys) AND Age related macular degeneration 4 ClinVar Detail
NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys) AND CFH-Related Dense Deposit Disease / Membranoproliferat... ClinVar Detail
NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys) AND Basal laminar drusen ClinVar Detail
NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys) AND Atypical hemolytic-uremic syndrome ClinVar Detail
NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys) AND not provided ClinVar Detail
NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys) AND multiple conditions ClinVar Detail
NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys) AND multiple conditions ClinVar Detail
NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys) AND multiple conditions ClinVar Detail
NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys) AND multiple conditions ClinVar Detail
NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys) AND Kidney disorder ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
We report a case of successful single kidney allograft transplantation in a patient with a CFH gene ... DisGeNET Detail
Three new genetic loci (R1210C in CFH, variants in COL8A1 and RAD51B) are independently related to p... DisGeNET Detail
The typical phenotype of the complement factor H R1210C rare variant is associated with extensive dr... DisGeNET Detail
Phenotypic Characterization of Complement Factor H R1210C Rare Genetic Variant in Age-Related Macula... DisGeNET Detail
Three new genetic loci (R1210C in CFH, variants in COL8A1 and RAD51B) are independently related to p... DisGeNET Detail
We report a case of successful single kidney allograft transplantation in a patient with a CFH gene ... DisGeNET Detail
Three new genetic loci (R1210C in CFH, variants in COL8A1 and RAD51B) are independently related to p... DisGeNET Detail
Three new genetic loci (R1210C in CFH, variants in COL8A1 and RAD51B) are independently related to p... DisGeNET Detail
The complement factor H R1210C mutation is associated with atypical hemolytic uremic syndrome. DisGeNET Detail
Three new genetic loci (R1210C in CFH, variants in COL8A1 and RAD51B) are independently related to p... DisGeNET Detail
Three new genetic loci (R1210C in CFH, variants in COL8A1 and RAD51B) are independently related to p... DisGeNET 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
rs121913059 dbSNP
Genome
hg38
Position
chr1:196,747,245-196,747,245
Variant Type
snv
Reference Allele
C
Alternative Allele
T
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
VQSRTrancheSNP99.60to99.80
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs121913059
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8642
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)
121388
Allele Counts in All Race (ExAC)
21
Heterozygous Counts in All Race (ExAC)
21
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.729989784822223E-4
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