Variant #0000717270 (NC_000001.10:g.2339996G>A, PEX10(NM_153818.1):c.495C>T)

Chromosome 1
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.2339996G>A
DNA change (hg38) -
Published as PEX10(NM_153818.1):c.495C>T (p.F165=)
ISCN -
DB-ID PEX10_000074
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) 0.00039 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     
RER1 NM_007033.4 -?/. - c.*5433G>A r.(=) p.(=)
PEX10 NM_153818.1 -?/. - c.495C>T r.(?) p.(Phe165=)