Variant #0000305473 (NC_000007.13:g.92148336G>C, PEX1(NM_000466.2):c.330C>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.92148336G>C
DNA change (hg38) g.92519022G>C
Published as PEX1(NM_000466.2):c.330C>G (p.P110=)
ISCN -
DB-ID PEX1_000118 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) 0.00224 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.330C>G r.(?) p.(Pro110=)