Variant #0000059527 (NC_000003.11:g.97499065G>A, NC_000003.11(NM_001278293.1):c.185+1G>A (ARL6))

Individual ID 00033156
Chromosome 3
Allele Parent #1
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.97499065G>A
DNA change (hg38) g.97780221G>A
Published as -
ISCN -
DB-ID ARL6_000001 See all 4 reported entries
Variant remarks -
Reference PubMed: Neveling 2012
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Kornelia Neveling
Database submission license No license selected
Created by Kornelia Neveling
Date created 2012-02-04 14:28:42 +01:00 (CET)
Date last edited 2020-06-15 12:26:51 +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 +/. 3i c.185+1G>A r.spl p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033224 DNA SEQ;SEQ-NG-S - - ARL6, IMPDH1, RPGRIP1 4 Kornelia Neveling


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