Variant #0000305480 (NC_000001.10:g.2338331G>T, PEX10(NM_153818.1):c.664C>A)

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.2338331G>T
DNA change (hg38) g.2406892G>T
Published as PEX10(NM_153818.1):c.664C>A (p.R222S)
ISCN -
DB-ID PEX10_000048
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) 9.0E-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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RER1 NM_007033.4 ?/. - c.*3768G>T r.(=) p.(=)
PEX10 NM_153818.1 ?/. - c.664C>A r.(?) p.(Arg222Ser)