chr16:31196352:G>A Detail (hg19) (FUS)

Information

Genome

Assembly Position
hg19 chr16:31,196,352-31,196,352
hg38 chr16:31,185,031-31,185,031 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001170937.1:c.616G>A NP_001164408.1:p.Gly206Ser
NM_004960.3:c.616G>A NP_004951.1:p.Gly206Ser
NR_028388.2:c.616G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:<0.001
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 137070 OMIM
HGNC 4010 HGNC
Ensembl ENSG00000089280 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv55275352 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2010-08-31 no assertion criteria provided amyotrophic lateral sclerosis type 6 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.240 AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004960.4(FUS):c.616G>A (p.Gly206Ser) AND Amyotrophic lateral sclerosis type 6 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
rs387906628 dbSNP
Genome
hg19
Position
chr16:31,196,352-31,196,352
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
Filtering Status (HGVD)
LowQual
# of samples (HGVD)
1197
Mean of sample read depth (HGVD)
35.44
Standard deviation of sample read depth (HGVD)
14.44
Number of reference allele (HGVD)
2392
Number of alternative allele (HGVD)
2
Allele Frequency (HGVD)
8.35421888053467E-4
Gene Symbol (HGVD)
FUS
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))
rs387906628
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0005
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
9
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8008
East Asian Allele Counts (ExAC)
2
East Asian Heterozygous Counts (ExAC)
2
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
2.4975024975024975E-4
Chromosome Counts in All Race (ExAC)
114732
Allele Counts in All Race (ExAC)
7
Heterozygous Counts in All Race (ExAC)
7
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
6.101174911968762E-5
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