Variant #0000520789 (NC_000003.11:g.93755577dup, ARL13B(NM_182896.2):c.668dup)

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.93755577dup
DNA change (hg38) g.94036733dup
Published as ARL13B(NM_001174150.1):c.668dupT (p.R224Afs*11)
ISCN -
DB-ID ARL13B_000023
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) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
STX19 NM_001001850.2 +/. - c.-8380dup r.(?) p.(=)
ARL13B NM_182896.2 +/. - c.668dup r.(?) p.(Arg224AlafsTer11)