Variant #0000520784 (NC_000003.11:g.93722680G>T, ARL13B(NM_182896.2):c.308G>T)

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.93722680G>T
DNA change (hg38) g.94003836G>T
Published as -
ISCN -
DB-ID ARL13B_000020
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_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
STX19 NM_001001850.2 ?/. - c.*10549C>A r.(=) p.(=)
ARL13B NM_182896.2 ?/. - c.308G>T r.(?) p.(Arg103Ile)