Variant #0000533051 (NC_000007.13:g.92151466C>T, PEX1(NM_000466.2):c.223G>A)

Chromosome 7
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.92151466C>T
DNA change (hg38) g.92522152C>T
Published as PEX1(NM_000466.2):c.223G>A (p.E75K)
ISCN -
DB-ID PEX1_000178
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) 0.00012 View details
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX1 NM_000466.2 ?/. - c.223G>A r.(?) p.(Glu75Lys)