Variant #0000573628 (NC_000023.10:g.13337302A>G, ATXN3L(NM_001135995.1):c.752T>C)

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.13337302A>G
DNA change (hg38) g.13319183A>G
Published as ATXN3L(NM_001135995.1):c.752T>C (p.I251T)
ISCN -
DB-ID ATXN3L_000014
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) 2.0E-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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ATXN3L NM_001135995.1 ?/. - c.752T>C r.(?) p.(Ile251Thr)