chr16:31202740:G>A Detail (hg19) (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	chr16:31,202,740-31,202,740
hg38	chr16:31,191,419-31,191,419 View the variant detail on this assembly version.

HGVS

FUS

Type	Transcript	Protein
RefSeq	NM_001170634.1:c.1559G>A	NP_001164105.1:p.Arg520His
	NM_001170937.1:c.1562G>A	NP_001164408.1:p.Arg521His
	NM_004960.3:c.1562G>A	NP_004951.1:p.Arg521His
	NR_028388.2:c.1562G>A
Ensemble	ENST00000568685.1:c.1565G>A	ENST00000568685.1:p.Arg522His
	ENST00000380244.8:c.1559G>A	ENST00000380244.8:p.Arg520His
	ENST00000715542.1:c.1556G>A	ENST00000715542.1:p.Arg519His
	ENST00000254108.12:c.1562G>A	ENST00000254108.12:p.Arg521His

Summary

MGeND

Clinical significance
Variant entry
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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic		criteria provided, single submitter	amyotrophic lateral sclerosis type 6	germline	Detail
Pathogenic	2022-10-19	criteria provided, single submitter	amyotrophic lateral sclerosis type 6,Tremor, hereditary essential, 4	germline	Detail
Pathogenic	2022-10-19	criteria provided, single submitter	amyotrophic lateral sclerosis type 6,Tremor, hereditary essential, 4	germline	Detail
Pathogenic	2024-02-01	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.240	AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)	NA	CLINVAR		Detail
<0.001	General Paralysis	We have generated Caenorhabditis elegans and zebrafish animal models expressing ...	BeFree	22848727	Detail
0.186	amyotrophic lateral sclerosis	We have generated Caenorhabditis elegans and zebrafish animal models expressing ...	BeFree	22848727	Detail
<0.001	General Paralysis	We have generated Caenorhabditis elegans and zebrafish animal models expressing ...	BeFree	22848727	Detail
0.380	amyotrophic lateral sclerosis	We have generated Caenorhabditis elegans and zebrafish animal models expressing ...	BeFree	22848727	Detail

Annotation

Annotations

Descrption	Source	Links
NM_004960.4(FUS):c.1562G>A (p.Arg521His) AND Amyotrophic lateral sclerosis type 6	ClinVar	Detail
NM_004960.4(FUS):c.1562G>A (p.Arg521His) AND multiple conditions	ClinVar	Detail
NM_004960.4(FUS):c.1562G>A (p.Arg521His) AND multiple conditions	ClinVar	Detail
NM_004960.4(FUS):c.1562G>A (p.Arg521His) AND not provided	ClinVar	Detail
NA	DisGeNET	Detail
We have generated Caenorhabditis elegans and zebrafish animal models expressing mutant human TDP-43 ...	DisGeNET	Detail
We have generated Caenorhabditis elegans and zebrafish animal models expressing mutant human TDP-43 ...	DisGeNET	Detail
We have generated Caenorhabditis elegans and zebrafish animal models expressing mutant human TDP-43 ...	DisGeNET	Detail
We have generated Caenorhabditis elegans and zebrafish animal models expressing mutant human TDP-43 ...	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: rs121909671 dbSNP
Genome: hg19
Position: chr16:31,202,740-31,202,740
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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