chr16:31191052: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	chr16:31,202,373-31,202,373 View the variant detail on this assembly version.
hg38	chr16:31,191,052-31,191,052

HGVS

FUS

Type	Transcript	Protein
RefSeq	NM_001170937.1:c.1483C>T	NP_001164408.1:p.Arg495Ter
	NM_004960.3:c.1483C>T	NP_004951.1:p.Arg495Ter
	NR_028388.2:c.1483C>T
	NM_001170634.1:c.1480C>T	NP_001164105.1:p.Arg494Ter
Ensemble	ENST00000254108.12:c.1483C>T	ENST00000254108.12:p.Arg495Ter
	ENST00000380244.8:c.1480C>T	ENST00000380244.8:p.Arg494Ter
	ENST00000568685.1:c.1486C>T	ENST00000568685.1:p.Arg496Ter
	ENST00000715542.1:c.1477C>T	ENST00000715542.1:p.Arg493Ter

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	2019-10-31	criteria provided, single submitter	amyotrophic lateral sclerosis type 6	germline unknown	Detail
Pathogenic	2021-04-05	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2023-06-14	criteria provided, single submitter	Tremor, hereditary essential, 4,amyotrophic lateral sclerosis type 6	germline	Detail
Pathogenic	2023-06-14	criteria provided, single submitter	Tremor, hereditary essential, 4,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
0.186	amyotrophic lateral sclerosis	We present the first case of an ALS patient carrying a de novo nonsense mutation...	BeFree	24439481	Detail

Annotation

Annotations

Descrption	Source	Links
NM_004960.4(FUS):c.1483C>T (p.Arg495Ter) AND Amyotrophic lateral sclerosis type 6	ClinVar	Detail
NM_004960.4(FUS):c.1483C>T (p.Arg495Ter) AND not provided	ClinVar	Detail
NM_004960.4(FUS):c.1483C>T (p.Arg495Ter) AND multiple conditions	ClinVar	Detail
NM_004960.4(FUS):c.1483C>T (p.Arg495Ter) AND multiple conditions	ClinVar	Detail
NA	DisGeNET	Detail
We present the first case of an ALS patient carrying a de novo nonsense mutation in exon 14 of the F...	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: rs387906627 dbSNP
Genome: hg38
Position: chr16:31,191,052-31,191,052
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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