Variant #0000816262 (NC_000001.10:g.2341891C>T, PEX10(NM_153818.1):c.113-1G>A)

Individual ID 00386876
Chromosome 1
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.2341891C>T
DNA change (hg38) g.2410452C>T
Published as PEX10 c.113-1G>A
ISCN -
DB-ID PEX10_000078
Variant remarks unsolved
Reference PubMed: Zampaglione-2020
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX10 NM_153818.1 ?/. - c.113-1G>A r.spl p.(?)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000388104 DNA SEQ-NG-I;SEQ blood - PEX10 1 LOVD