Variant #0000690096 (NC_000007.13:g.92146860A>G, PEX1(NM_000466.2):c.969T>C)

Chromosome 7
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.92146860A>G
DNA change (hg38) -
Published as PEX1(NM_001282678.2):c.345T>C (p.D115=)
ISCN -
DB-ID PEX1_000311
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) Variant not found in online data sets
Owner VKGL-NL_AMC
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX1 NM_000466.2 -?/. - c.969T>C r.(?) p.(Asp323=)