Variant #0000717269 (NC_000001.10:g.2337930C>T, PEX10(NM_153818.1):c.965G>A)

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.2337930C>T
DNA change (hg38) -
Published as PEX10(NM_153818.1):c.965G>A (p.S322N)
ISCN -
DB-ID PEX10_000073
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) 2.0E-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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RER1 NM_007033.4 -?/. - c.*3367C>T r.(=) p.(=)
PEX10 NM_153818.1 -?/. - c.965G>A r.(?) p.(Ser322Asn)