Variant #0000813978 (NC_000003.11:g.97510670G>A, NM_001278293.1:c.535G>A (ARL6))

Individual ID 00385226
Chromosome 3
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.97510670G>A
DNA change (hg38) -
Published as c.[535G>A];[=]
ISCN -
DB-ID ARL6_000063
Variant remarks normal 2nd chromosome
Reference PubMed: Redin-2012
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
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 Julia Lopez
Date created 2021-10-09 03:44:00 +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 ?/. 7 c.535G>A r.(?) p.(Asp179Asn)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000386455 DNA arrayCNV;SEQ blood - ARL6 1 LOVD


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