Variant #0000520790 (NC_000003.11:g.93758796_93758799dup, ARL13B(NM_182896.2):c.762_765dup)

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.93758796_93758799dup
DNA change (hg38) g.94039952_94039955dup
Published as ARL13B(NM_001174150.1):c.762_765dupGAAT (p.P256Efs*12)
ISCN -
DB-ID ARL13B_000024
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.-11602_-11599dup r.(?) p.(=)
ARL13B NM_182896.2 ?/. - c.762_765dup r.(?) p.(Pro256GlufsTer12)