Variant #0000261064 (NC_000003.11:g.93769748G>C, ARL13B(NM_182896.2):c.1210+12G>C)

Chromosome 3
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.93769748G>C
DNA change (hg38) g.94050904G>C
Published as ARL13B(NM_182896.3):c.1210+12G>C
ISCN -
DB-ID ARL13B_000017
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
STX19 NM_001001850.2 -/. - c.-22551C>G r.(?) p.(=)
ARL13B NM_182896.2 -/. - c.1210+12G>C r.(=) p.(=)