chr16:31190398:C>T Detail (hg38) (FUS)

Information

Genome

Assembly Position
hg19 chr16:31,201,719-31,201,719 View the variant detail on this assembly version.
hg38 chr16:31,190,398-31,190,398

HGVS

Type Transcript Protein
RefSeq NM_001170937.1:c.1292C>T NP_001164408.1:p.Pro431Leu
NM_004960.3:c.1292C>T NP_004951.1:p.Pro431Leu
NR_028388.2:c.1292C>T
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 Conflicting classifications of pathogenicity
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 tgv227789611 TogoVar
COSMIC COSM1207655 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2012-08-10 no assertion criteria provided Tremor, hereditary essential, 4 germline Detail
Uncertain significance 2017-10-09 criteria provided, single submitter not provided germline Detail
Uncertain significance 2024-01-16 criteria provided, multiple submitters, no conflicts Tremor, hereditary essential, 4,amyotrophic lateral sclerosis type 6 germline unknown Detail
Uncertain significance 2024-01-16 criteria provided, multiple submitters, no conflicts Tremor, hereditary essential, 4,amyotrophic lateral sclerosis type 6 germline unknown Detail
Likely pathogenic 2022-02-02 no assertion criteria provided frontotemporal dementia unknown Detail
Likely benign 2019-12-28 criteria provided, single submitter Inborn genetic diseases germline Detail
Uncertain significance 2024-01-05 criteria provided, single submitter FUS-related disorder germline Detail
Uncertain significance 2024-03-01 criteria provided, single submitter amyotrophic lateral sclerosis germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.240 Tremor, hereditary essential, 4 NA CLINVAR Detail
0.240 Tremor, hereditary essential, 4 Exome sequencing identifies FUS mutations as a cause of essential tremor. UNIPROT 22863194 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004960.4(FUS):c.1292C>T (p.Pro431Leu) AND Tremor, hereditary essential, 4 ClinVar Detail
NM_004960.4(FUS):c.1292C>T (p.Pro431Leu) AND not provided ClinVar Detail
NM_004960.4(FUS):c.1292C>T (p.Pro431Leu) AND multiple conditions ClinVar Detail
NM_004960.4(FUS):c.1292C>T (p.Pro431Leu) AND multiple conditions ClinVar Detail
NM_004960.4(FUS):c.1292C>T (p.Pro431Leu) AND Frontotemporal dementia ClinVar Detail
NM_004960.4(FUS):c.1292C>T (p.Pro431Leu) AND Inborn genetic diseases ClinVar Detail
NM_004960.4(FUS):c.1292C>T (p.Pro431Leu) AND FUS-related disorder ClinVar Detail
NM_004960.4(FUS):c.1292C>T (p.Pro431Leu) AND Amyotrophic lateral sclerosis ClinVar Detail
NA DisGeNET Detail
Exome sequencing identifies FUS mutations as a cause of essential tremor. 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
rs186547381 dbSNP
Genome
hg38
Position
chr16:31,190,398-31,190,398
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8650
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)
121334
Allele Counts in All Race (ExAC)
8
Heterozygous Counts in All Race (ExAC)
8
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
6.59337036609689E-5
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