Variant #0000307030 (NC_000001.10:g.2330934T>C, PEX10(NM_153818.1):c.*6271A>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.2330934T>C
DNA change (hg38) g.2399495T>C
Published as RER1(NM_007033.4):c.267T>C (p.P89=)
ISCN -
DB-ID RER1_000001
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_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.267T>C r.(?) p.(Pro89=)
PEX10 NM_153818.1 -?/. - c.*6271A>G r.(=) p.(=)