Variant #0000293686 (NC_000007.13:g.92147527T>C, PEX1(NM_000466.2):c.400A>G)

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.92147527T>C
DNA change (hg38) g.92518213T>C
Published as PEX1(NM_000466.2):c.400A>G (p.I134V)
ISCN -
DB-ID PEX1_000116
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 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.400A>G r.(?) p.(Ile134Val)