Variant #0000736175 (NC_000003.11:g.97506846G>A, NM_001278293.1:c.362G>A (ARL6))

Individual ID 00335456
Chromosome 3
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.97506846G>A
DNA change (hg38) g.97788002G>A
Published as -
ISCN -
DB-ID ARL6_000041 See all 4 reported entries
Variant remarks -
Reference PubMed: Biswas 2017
ClinVar ID -
dbSNP ID rs765715798
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 4.0E-5 View details
Owner LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-03-05 19:30:17 +01:00 (CET)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ARL6 NM_001278293.1 +/. - c.362G>A r.(?) p.(Arg121His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000336685 DNA SEQ-NG - WES ARL6 2 LOVD


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