Variant #0000094915 (NC_000003.11:g.97510669A>G, NM_001278293.1:c.534A>G (ARL6))

Individual ID 00063828
Chromosome 3
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.97510669A>G
DNA change (hg38) g.97791825A>G
Published as g.38272A>G
ISCN -
DB-ID ARL6_000026 See all 4 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Muhammad Ajmal
Database submission license No license selected
Created by Muhammad Ajmal
Date created 2016-04-18 14:47:34 +02:00 (CEST)
Date last edited 2016-04-19 09:24:37 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ARL6 NM_001278293.1 +?/. 7 c.534A>G r.spl? p.(Gln178=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000063959 DNA SEQ - - ARL6 1 Muhammad Ajmal


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