Variant #0000719636 (NC_000003.11:g.93762085G>A, ARL13B(NM_182896.2):c.1024+1G>A)

Chromosome 3
Allele Unknown
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.93762085G>A
DNA change (hg38) -
Published as ARL13B(NM_001321328.2):c.979+1G>A
ISCN -
DB-ID ARL13B_000027
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner VKGL-NL_VUmc
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_VUmc
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
STX19 NM_001001850.2 +/. - c.-14888C>T r.(?) p.(=)
ARL13B NM_182896.2 +/. - c.1024+1G>A r.spl? p.?