Variant #0000841432 (NC_000003.11:g.97503810C>T, NM_001278293.1:c.266C>T (ARL6))

Individual ID 00404107
Chromosome 3
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.97503810C>T
DNA change (hg38) -
Published as 619C>T (A89V)
ISCN -
DB-ID ARL6_000070
Variant remarks functional analysis
Reference PubMed: Aldahmesh 2009, PubMed: Pretorius 2011
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2022-02-27 17:18:34 +01:00 (CET)
Date last edited 2022-02-27 20:59:21 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ARL6 NM_001278293.1 +/. - c.266C>T r.(?) p.(Ala89Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000405345 DNA arraySNP;SEQ - - ARL6 1 Johan den Dunnen


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