Variant #0000293667 (NC_000007.13:g.92157600G>A, PEX1(NM_000466.2):c.129+21C>T)

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.92157600G>A
DNA change (hg38) g.92528286G>A
Published as PEX1(NM_001282678.2):c.-531+21C>T
ISCN -
DB-ID PEX1_000119
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) 0.00054 View details
Owner VKGL-NL_AMC
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX1 NM_000466.2 -?/. - c.129+21C>T r.(=) p.(=)
RBM48 NM_032120.2 -?/. - c.-528G>A r.(?) p.(=)