Variant #0000331687 (NC_000007.13:g.92146909T>G, PEX1(NM_000466.2):c.920A>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.92146909T>G
DNA change (hg38) g.92517595T>G
Published as PEX1(NM_000466.2):c.920A>C (p.(His307Pro))
ISCN -
DB-ID PEX1_000167
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) 2.0E-5 View details
Owner VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX1 NM_000466.2 -?/. - c.920A>C r.(?) p.(His307Pro)