chr1:196716319:C>T Detail (hg19) (CFH)

Information

Genome

Assembly Position
hg19 chr1:196,716,319-196,716,319
hg38 chr1:196,747,189-196,747,189 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000186.3:c.3572C>T NP_000177.2:p.Ser1191Leu
Ensemble ENST00000696029.1:c.3566C>T ENST00000696029.1:p.Ser1189Leu
ENST00000695976.1:c.3383C>T ENST00000695976.1:p.Ser1128Leu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
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
COSMIC COSM3480827 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
risk factor 2000-05-01 no assertion criteria provided Hemolytic uremic syndrome, atypical, susceptibility to, 1 germline unknown Detail
Pathogenic 2022-01-04 criteria provided, single submitter not provided germline Detail
Pathogenic 2022-04-19 criteria provided, single submitter Hemolytic uremic syndrome, atypical, susceptibility to, 1,Factor H deficiency,basal laminar drusen,age related macular degeneration 4 unknown Detail
Pathogenic 2022-04-19 criteria provided, single submitter Hemolytic uremic syndrome, atypical, susceptibility to, 1,Factor H deficiency,basal laminar drusen,age related macular degeneration 4 unknown Detail
Pathogenic 2022-04-19 criteria provided, single submitter Hemolytic uremic syndrome, atypical, susceptibility to, 1,Factor H deficiency,basal laminar drusen,age related macular degeneration 4 unknown Detail
Pathogenic 2022-04-19 criteria provided, single submitter Hemolytic uremic syndrome, atypical, susceptibility to, 1,Factor H deficiency,basal laminar drusen,age related macular degeneration 4 unknown Detail
Pathogenic 2023-04-11 criteria provided, single submitter Factor H deficiency germline Detail
Pathogenic 2022-04-08 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 NA CLINVAR Detail
0.232 Atypical Hemolytic Uremic Syndrome Renal transplantation in patients with the S1191L mutation of the CFH gene carri... BeFree 19856002 Detail
0.320 Hemolytic uremic syndrome, atypical, susceptibility to, 1 Complement factor H gene mutation associated with autosomal recessive atypical h... UNIPROT 10577907 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu) AND Hemolytic uremic syndrome, atypical, susceptibility to... ClinVar Detail
NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu) AND not provided ClinVar Detail
NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu) AND multiple conditions ClinVar Detail
NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu) AND multiple conditions ClinVar Detail
NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu) AND multiple conditions ClinVar Detail
NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu) AND multiple conditions ClinVar Detail
NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu) AND Factor H deficiency ClinVar Detail
NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu) AND CFH-related disorder ClinVar Detail
NA DisGeNET Detail
Renal transplantation in patients with the S1191L mutation of the CFH gene carries a high risk of fa... DisGeNET Detail
Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic synd... 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
rs460897 dbSNP
Genome
hg19
Position
chr1:196,716,319-196,716,319
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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