Variant #0000719635 (NC_000003.11:g.93755416G>A, ARL13B(NM_182896.2):c.507G>A)

Chromosome 3
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.93755416G>A
DNA change (hg38) -
Published as ARL13B(NM_001174150.1):c.507G>A (p.S169=)
ISCN -
DB-ID ARL13B_000032
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_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
STX19 NM_001001850.2 -?/. - c.-8219C>T r.(?) p.(=)
ARL13B NM_182896.2 -?/. - c.507G>A r.(?) p.(Ser169=)