Variant #0000320465 (NC_000001.10:g.2339896T>G, PEX10(NM_153818.1):c.595A>C)

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.2339896T>G
DNA change (hg38) g.2408457T>G
Published as PEX10(NM_002617.3):c.595A>C (p.(Thr199Pro))
ISCN -
DB-ID PEX10_000049
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) Variant not found in online data sets
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     
RER1 NM_007033.4 ?/. - c.*5333T>G r.(=) p.(=)
PEX10 NM_153818.1 ?/. - c.595A>C r.(?) p.(Thr199Pro)