chr16:31191418:C>T Detail (hg38) (FUS)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr16:31,202,739-31,202,739 View the variant detail on this assembly version.
hg38	chr16:31,191,418-31,191,418

HGVS

FUS

Type	Transcript	Protein
RefSeq	NM_001170937.1:c.1561C>T	NP_001164408.1:p.Arg521Cys
	NM_004960.3:c.1561C>T	NP_004951.1:p.Arg521Cys
	NR_028388.2:c.1561C>T
	NM_001170634.1:c.1558C>T	NP_001164105.1:p.Arg520Cys
Ensemble	ENST00000254108.12:c.1561C>T	ENST00000254108.12:p.Arg521Cys
	ENST00000380244.8:c.1558C>T	ENST00000380244.8:p.Arg520Cys
	ENST00000568685.1:c.1564C>T	ENST00000568685.1:p.Arg522Cys
	ENST00000715542.1:c.1555C>T	ENST00000715542.1:p.Arg519Cys

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	5
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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Links

FUS

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
	COSMIC	COSM5906021	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		Amyotrophic lateral sclerosis	germline	MGS000009 (TMGS000039)	Shoji Tsuji	Tokyo University
Pathogenic		familial amyotrophic lateral sclerosis	germline	MGS000082 (TMGS000165)	Kenjiro Kosaki Kenjiro Kosaki	Keio University Mutation View

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
Pathogenic	2023-12-01	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2023-12-01	criteria provided, single submitter	amyotrophic lateral sclerosis type 6,Tremor, hereditary essential, 4	germline	Detail
Pathogenic	2023-12-01	criteria provided, single submitter	amyotrophic lateral sclerosis type 6,Tremor, hereditary essential, 4	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.012	AMYOTROPHIC LATERAL SCLEROSIS 1	Using transgenic mice expressing a common FALS-associated FUS mutation (FUS-R521...	BeFree	24509083	Detail
0.012	AMYOTROPHIC LATERAL SCLEROSIS 1	FUS/TLS-immunoreactive neuronal and glial cell inclusions increase with disease ...	BeFree	22878663	Detail
0.240	AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)	NA	CLINVAR		Detail
<0.001	AMYOTROPHIC LATERAL SCLEROSIS 1	Using transgenic mice expressing a common FALS-associated FUS mutation (FUS-R521...	BeFree	24509083	Detail

Annotation

Annotations

Descrption	Source	Links
NM_004960.4(FUS):c.1561C>T (p.Arg521Cys) AND Amyotrophic lateral sclerosis type 6	ClinVar	Detail
NM_004960.4(FUS):c.1561C>T (p.Arg521Cys) AND not provided	ClinVar	Detail
NM_004960.4(FUS):c.1561C>T (p.Arg521Cys) AND multiple conditions	ClinVar	Detail
NM_004960.4(FUS):c.1561C>T (p.Arg521Cys) AND multiple conditions	ClinVar	Detail
Using transgenic mice expressing a common FALS-associated FUS mutation (FUS-R521C mice), we found th...	DisGeNET	Detail
FUS/TLS-immunoreactive neuronal and glial cell inclusions increase with disease duration in familial...	DisGeNET	Detail
NA	DisGeNET	Detail
Using transgenic mice expressing a common FALS-associated FUS mutation (FUS-R521C mice), we found th...	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: rs121909668 dbSNP
Genome: hg38
Position: chr16:31,191,418-31,191,418
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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