Variant #0000527311 (NC_000006.11:g.137147598C>T, PEX7(NM_000288.3):c.330C>T)

Chromosome 6
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.137147598C>T
DNA change (hg38) g.136826460C>T
Published as PEX7(NM_000288.3):c.330C>T (p.H110=)
ISCN -
DB-ID PEX7_000064
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) 0.00017 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX7 NM_000288.3 -?/. - c.330C>T r.(?) p.(His110=)