chr6:31952053:C>T Detail (hg38) (CFB)

Information

Genome

Assembly Position
hg19 chr6:31,919,830-31,919,830 View the variant detail on this assembly version.
hg38 chr6:31,952,053-31,952,053

HGVS

Type Transcript Protein
RefSeq NM_001710.5:c.*23C>T
Ensemble ENST00000425368.7:c.*23C>T
ENST00000483004.2:c.*23C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.021
ToMMo:0.030
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.017

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 tgv24805121 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-01-13 criteria provided, single submitter macular degeneration germline Detail
Benign 2018-01-13 criteria provided, single submitter Atypical hemolytic-uremic syndrome with B factor anomaly germline Detail
Benign 2021-06-21 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.125 age related macular degeneration NA GAD Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001710.6(CFB):c.*23C>T AND Macular degeneration ClinVar Detail
NM_001710.6(CFB):c.*23C>T AND Atypical hemolytic-uremic syndrome with B factor anomaly ClinVar Detail
NM_001710.6(CFB):c.*23C>T 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
rs4151672 dbSNP
Genome
hg38
Position
chr6:31,952,053-31,952,053
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
798
Mean of sample read depth (HGVD)
66.40
Standard deviation of sample read depth (HGVD)
28.42
Number of reference allele (HGVD)
1563
Number of alternative allele (HGVD)
33
Allele Frequency (HGVD)
0.020676691729323307
Gene Symbol (HGVD)
CFB
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs4151672
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.03
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
503
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8358
East Asian Allele Counts (ExAC)
141
East Asian Heterozygous Counts (ExAC)
137
East Asian Homozygous Counts (ExAC)
2
East Asian Allele Frequency (ExAC)
0.016870064608758076
Chromosome Counts in All Race (ExAC)
114792
Allele Counts in All Race (ExAC)
4483
Heterozygous Counts in All Race (ExAC)
4275
Homozygous Counts in All Race (ExAC)
104
Allele Frequency in All Race (ExAC)
0.039053244128510696
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