Variant #0000527308 (NC_000006.11:g.137143910C>T, PEX7(NM_000288.3):c.107C>T)

Chromosome 6
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.137143910C>T
DNA change (hg38) g.136822772C>T
Published as PEX7(NM_000288.3):c.107C>T (p.T36I)
ISCN -
DB-ID PEX7_000061
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) 3.0E-5 View details
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX7 NM_000288.3 ?/. - c.107C>T r.(?) p.(Thr36Ile)