Variant #0000293669 (NC_000007.13:g.92147192G>A, PEX1(NM_000466.2):c.637C>T)

Chromosome 7
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.92147192G>A
DNA change (hg38) g.92517878G>A
Published as PEX1(NM_000466.2):c.637C>T (p.(Leu213Phe)), PEX1(NM_001282678.1):c.13C>T (p.L5F), PEX1(NM_001282678.2):c.13C>T (p.L5F)
ISCN -
DB-ID PEX1_000113 See all 3 reported entries
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX1 NM_000466.2 -/. - c.637C>T r.(?) p.(Leu213Phe)