Variant #0000801396 (NC_000003.11:g.93715451G>A, ARL13B(NM_182896.2):c.130+663G>A)

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.93715451G>A
DNA change (hg38) -
Published as ARL13B(NM_001321328.1):c.8G>A (p.S3N)
ISCN -
DB-ID ARL13B_000039
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) 0.00016 View details
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.*17778C>T r.(=) p.(=)
ARL13B NM_182896.2 ?/. - c.130+663G>A r.(=) p.(=)