Variant #0000243935 (NC_000016.9:g.31196307G>A, NM_004960.3:c.(571G>A) (FUS))

Individual ID 00149647
Chromosome 16
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.31196307G>A
DNA change (hg38) g.31184986G>A
Published as -
ISCN -
DB-ID FUS_000127
Variant remarks Observed in 1 familial ALS patient, absent from 793 control individuals. /r/Point mutation in coding region predicting an amino acid substitution
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation no
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Marc Cruts
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Date created 2013-03-04 17:13:03 +01:00 (CET)
Date last edited 2019-07-16 18:35:02 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FUS NM_004960.3 ?/? 6 c.(571G>A) r.(?) p.(Gly191Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000150503 DNA ? - - FUS 1 Marc Cruts


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