Variant #0000813237 (NC_000003.11:g.97506915C>T, NM_001278293.1:c.431C>T (ARL6))

Individual ID 00384789
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.97506915C>T
DNA change (hg38) -
Published as BBS3:c.431C>T p.(S144F)
ISCN -
DB-ID ARL6_000061 See all 5 reported entries
Variant remarks -
Reference PubMed: Abu-Safieh-2012, Abu-Safieh 2010
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 0/96 ethnically matched controls
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Date created 2021-10-05 15:28:49 +02:00 (CEST)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ARL6 NM_001278293.1 +?/. 6 c.431C>T r.(?) p.(Ser144Phe)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000386015 DNA;RNA arraySNP;SEQ;RT-PCR blood - ARL6 2 LOVD


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