chr6:31950687:A>G Detail (hg38) (CFB)

Information

Genome

Assembly Position
hg19 chr6:31,918,464-31,918,464 View the variant detail on this assembly version.
hg38 chr6:31,950,687-31,950,687

HGVS

Type Transcript Protein
RefSeq NM_001710.5:c.1693A>G NP_001701.2:p.Lys565Glu
Ensemble ENST00000425368.7:c.1693A>G ENST00000425368.7:p.Lys565Glu
ENST00000483004.2:c.1477A>G ENST00000483004.2:p.Lys493Glu
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 Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 138470 OMIM
HGNC 1037 HGNC
Ensembl ENSG00000243649 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv341123498 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-01-12 criteria provided, single submitter Atypical hemolytic-uremic syndrome with B factor anomaly germline Detail
Benign 2018-01-12 criteria provided, single submitter macular degeneration germline Detail
Benign 2024-01-31 criteria provided, single submitter not provided germline Detail
Benign 2022-07-08 criteria provided, single submitter atypical hemolytic-uremic syndrome germline Detail
Benign 2019-04-01 criteria provided, single submitter CFB-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.292 age related macular degeneration No association with AMD was found for SNP rs9332739 (E318D) in the C2 gene or fo... BeFree 18806293 Detail
0.012 Diabetes Mellitus, Insulin-Dependent Markers rs4151659 (mapping to CFB) and rs7762619 (mapping 5' of LTA) were the mo... BeFree 20054343 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001710.6(CFB):c.1693A>G (p.Lys565Glu) AND Atypical hemolytic-uremic syndrome with B factor anomal... ClinVar Detail
NM_001710.6(CFB):c.1693A>G (p.Lys565Glu) AND Macular degeneration ClinVar Detail
NM_001710.6(CFB):c.1693A>G (p.Lys565Glu) AND not provided ClinVar Detail
NM_001710.6(CFB):c.1693A>G (p.Lys565Glu) AND Atypical hemolytic-uremic syndrome ClinVar Detail
NM_001710.6(CFB):c.1693A>G (p.Lys565Glu) AND CFB-related disorder ClinVar Detail
No association with AMD was found for SNP rs9332739 (E318D) in the C2 gene or for rs4151667 (L9H), r... DisGeNET Detail
Markers rs4151659 (mapping to CFB) and rs7762619 (mapping 5' of LTA) were the most strongly associat... 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
rs4151659 dbSNP
Genome
hg38
Position
chr6:31,950,687-31,950,687
Variant Type
snv
Reference Allele
A
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8518
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)
116164
Allele Counts in All Race (ExAC)
1248
Heterozygous Counts in All Race (ExAC)
1204
Homozygous Counts in All Race (ExAC)
22
Allele Frequency in All Race (ExAC)
0.01074343170001033
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