chr1:157678753:T>C Detail (hg38) (FCRL3)

Information

Genome

Assembly Position
hg19 chr1:157,648,543-157,648,543 View the variant detail on this assembly version.
hg38 chr1:157,678,753-157,678,753

HGVS

Type Transcript Protein
RefSeq NM_052939.3:c.2162A>G NP_443171.2:p.Asn721Ser
NM_001320333.1:c.2162A>G NP_001307262.1:p.Asn721Ser
Ensemble ENST00000368184.8:c.2162A>G ENST00000368184.8:p.Asn721Ser
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.042
ToMMo:0.034
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.060

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 606510 OMIM
HGNC 18506 HGNC
Ensembl ENSG00000160856 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv3412752 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2021-02-24 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 neuromyelitis optica The Fc Receptor-Like 3 Polymorphisms (rs7528684, rs945635, rs3761959 and rs22822... BeFree 26402798 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_052939.4(FCRL3):c.2162A>G (p.Asn721Ser) AND not provided ClinVar Detail
The Fc Receptor-Like 3 Polymorphisms (rs7528684, rs945635, rs3761959 and rs2282284) and The Risk of ... 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
rs2282284 dbSNP
Genome
hg38
Position
chr1:157,678,753-157,678,753
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
211.24
Standard deviation of sample read depth (HGVD)
86.16
Number of reference allele (HGVD)
2318
Number of alternative allele (HGVD)
101
Allele Frequency (HGVD)
0.04175279040926003
Gene Symbol (HGVD)
FCRL3
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))
rs2282284
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0337
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
565
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8652
East Asian Allele Counts (ExAC)
519
East Asian Heterozygous Counts (ExAC)
473
East Asian Homozygous Counts (ExAC)
23
East Asian Allele Frequency (ExAC)
0.05998613037447989
Chromosome Counts in All Race (ExAC)
121334
Allele Counts in All Race (ExAC)
6814
Heterozygous Counts in All Race (ExAC)
6400
Homozygous Counts in All Race (ExAC)
207
Allele Frequency in All Race (ExAC)
0.056159032093230254
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