chr16:31185061: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	chr16:31,196,382-31,196,382 View the variant detail on this assembly version.
hg38	chr16:31,185,061-31,185,061

HGVS

FUS

Type	Transcript	Protein
RefSeq	NM_001170937.1:c.646C>T	NP_001164408.1:p.Arg216Cys
	NM_004960.3:c.646C>T	NP_004951.1:p.Arg216Cys
	NR_028388.2:c.646C>T
	NM_001170634.1:c.643C>T	NP_001164105.1:p.Arg215Cys
Ensemble	ENST00000254108.12:c.646C>T	ENST00000254108.12:p.Arg216Cys
	ENST00000380244.8:c.643C>T	ENST00000380244.8:p.Arg215Cys
	ENST00000568685.1:c.646C>T	ENST00000568685.1:p.Arg216Cys
	ENST00000715542.1:c.640C>T	ENST00000715542.1:p.Arg214Cys

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

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	2012-08-10	no assertion criteria provided	amyotrophic lateral sclerosis type 6	germline	Detail
Pathogenic	2012-08-10	no assertion criteria provided	Tremor, hereditary essential, 4	germline	Detail
Likely benign	2019-08-08	criteria provided, single submitter	not provided	germline	Detail
Uncertain significance	2022-05-04	criteria provided, single submitter	not specified	germline	Detail
Likely benign	2022-09-13	criteria provided, single submitter	amyotrophic lateral sclerosis type 6,Tremor, hereditary essential, 4	germline	Detail
Likely benign	2022-09-13	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
0.240	AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)	NA	CLINVAR		Detail
0.240	Tremor, hereditary essential, 4	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_004960.4(FUS):c.646C>T (p.Arg216Cys) AND Amyotrophic lateral sclerosis type 6	ClinVar	Detail
NM_004960.4(FUS):c.646C>T (p.Arg216Cys) AND Tremor, hereditary essential, 4	ClinVar	Detail
NM_004960.4(FUS):c.646C>T (p.Arg216Cys) AND not provided	ClinVar	Detail
NM_004960.4(FUS):c.646C>T (p.Arg216Cys) AND not specified	ClinVar	Detail
NM_004960.4(FUS):c.646C>T (p.Arg216Cys) AND multiple conditions	ClinVar	Detail
NM_004960.4(FUS):c.646C>T (p.Arg216Cys) AND multiple conditions	ClinVar	Detail
NA	DisGeNET	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: rs267606832 dbSNP
Genome: hg38
Position: chr16:31,185,061-31,185,061
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 7482
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): 107880
Allele Counts in All Race (ExAC): 3
Heterozygous Counts in All Race (ExAC): 3
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 2.7808676307007788E-5

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