Variant #0000820632 (NC_000003.11:g.97510663G>T, NM_001278293.1:c.528G>T (ARL6))

Individual ID 00388803
Chromosome 3
Allele Parent #1
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.97510663G>T
DNA change (hg38) g.97791819G>T
Published as ARL6, variant 1: c.291T>A/p.S97R, variant 2: c.528G>T/p.W176C
ISCN -
DB-ID ARL6_000068 See all 2 reported entries
Variant remarks possibly solved, compound heterozygous
Reference PubMed: Weisschuh 2020
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
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 Anna Tracewska
Date created 2021-11-08 10:11:04 +01:00 (CET)
Date last edited 2022-02-27 16:18:39 +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.528G>T r.(?) p.(Trp176Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000390046 DNA SEQ-NG blood RET3 targeted sequencing panel - see paper ARL6 2 LOVD


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