Variant #0000329534 (NC_000003.11:g.93699272T>G, ARL13B(NM_182896.2):c.5T>G)

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.93699272T>G
DNA change (hg38) g.93980428T>G
Published as ARL13B(NM_001174150.1):c.5T>G (p.(Phe2Cys))
ISCN -
DB-ID ARL13B_000006
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) 0.00032 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
STX19 NM_001001850.2 ?/. - c.*33957A>C r.(=) p.(=)
ARL13B NM_182896.2 ?/. - c.5T>G r.(?) p.(Phe2Cys)