Variant #0000505923 (NC_000001.10:g.2338015T>C, PEX10(NM_153818.1):c.880A>G)

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.2338015T>C
DNA change (hg38) g.2406576T>C
Published as PEX10(NM_153818.1):c.880A>G (p.T294A)
ISCN -
DB-ID PEX10_000014 See all 5 reported entries
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) 0.02024 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RER1 NM_007033.4 -?/. - c.*3452T>C r.(=) p.(=)
PEX10 NM_153818.1 -?/. - c.880A>G r.(?) p.(Thr294Ala)