Variant #0000619014 (NC_000023.10:g.13337791C>T, ATXN3L(NM_001135995.1):c.263G>A)

Chromosome X
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.13337791C>T
DNA change (hg38) g.13319672C>T
Published as ATXN3L(NM_001135995.1):c.263G>A (p.G88D)
ISCN -
DB-ID ATXN3L_000015
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) Retrieve
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     
ATXN3L NM_001135995.1 ?/. - c.263G>A r.(?) p.(Gly88Asp)