chr1:196740703:C>T Detail (hg38) (CFH)

Information

Genome

Assembly Position
hg19 chr1:196,709,833-196,709,833 View the variant detail on this assembly version.
hg38 chr1:196,740,703-196,740,703

HGVS

Type Transcript Protein
RefSeq NM_000186.3:c.2867C>T NP_000177.2:p.Thr956Met
Ensemble ENST00000367429.9:c.2867C>T ENST00000367429.9:p.Thr956Met
ENST00000695970.1:c.2783-1172C>T
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 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 tgv185229925 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely benign 2017-04-27 criteria provided, single submitter CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II germline Detail
Likely benign 2017-04-27 criteria provided, single submitter basal laminar drusen germline Detail
Likely benign 2017-04-27 criteria provided, single submitter Hemolytic uremic syndrome, atypical, susceptibility to, 1 germline Detail
Likely benign 2017-04-27 criteria provided, single submitter age related macular degeneration 4 germline Detail
Benign Likely benign 2024-01-25 criteria provided, multiple submitters, no conflicts not provided germline Detail
Uncertain significance 2015-06-02 criteria provided, single submitter Non-immunoglobulin-mediated membranoproliferative glomerulonephritis germline Detail
Likely benign 2021-11-16 criteria provided, single submitter atypical hemolytic-uremic syndrome germline Detail
Likely benign 2024-01-26 criteria provided, single submitter not specified germline Detail
Likely benign 2020-02-18 criteria provided, single submitter CFH-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.320 Hemolytic uremic syndrome, atypical, susceptibility to, 1 Clustering of missense mutations in the C-terminal region of factor H in atypica... UNIPROT 11170895 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000186.4(CFH):c.2867C>T (p.Thr956Met) AND CFH-Related Dense Deposit Disease / Membranoproliferati... ClinVar Detail
NM_000186.4(CFH):c.2867C>T (p.Thr956Met) AND Basal laminar drusen ClinVar Detail
NM_000186.4(CFH):c.2867C>T (p.Thr956Met) AND Hemolytic uremic syndrome, atypical, susceptibility to,... ClinVar Detail
NM_000186.4(CFH):c.2867C>T (p.Thr956Met) AND Age related macular degeneration 4 ClinVar Detail
NM_000186.4(CFH):c.2867C>T (p.Thr956Met) AND not provided ClinVar Detail
NM_000186.4(CFH):c.2867C>T (p.Thr956Met) AND Non-immunoglobulin-mediated membranoproliferative glome... ClinVar Detail
NM_000186.4(CFH):c.2867C>T (p.Thr956Met) AND Atypical hemolytic-uremic syndrome ClinVar Detail
NM_000186.4(CFH):c.2867C>T (p.Thr956Met) AND not specified ClinVar Detail
NM_000186.4(CFH):c.2867C>T (p.Thr956Met) AND CFH-related disorder ClinVar Detail
Clustering of missense mutations in the C-terminal region of factor H in atypical hemolytic uremic s... 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
rs145975787 dbSNP
Genome
hg38
Position
chr1:196,740,703-196,740,703
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8650
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)
121400
Allele Counts in All Race (ExAC)
147
Heterozygous Counts in All Race (ExAC)
147
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
0.0012108731466227347
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