chr16:31202731:G>A Detail (hg19) (FUS)

Information

Genome

Assembly Position
hg19 chr16:31,202,731-31,202,731
hg38 chr16:31,191,410-31,191,410 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001170634.1:c.1550G>A NP_001164105.1:p.Arg517Lys
NM_001170937.1:c.1553G>A NP_001164408.1:p.Arg518Lys
NM_004960.3:c.1553G>A NP_004951.1:p.Arg518Lys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2009-02-27 no assertion criteria provided 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
Annotation

Annotations

DescrptionSourceLinks
NM_004960.4(FUS):c.1553G>A (p.Arg518Lys) AND Amyotrophic lateral sclerosis type 6 ClinVar 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
rs121909669 dbSNP
Genome
hg19
Position
chr16:31,202,731-31,202,731
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser