Variant #0000788454 (NC_000007.13:g.92147204T>G, PEX1(NM_000466.2):c.625A>C)

Individual ID 00375426
Chromosome 7
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.92147204T>G
DNA change (hg38) g.92517890T>G
Published as A625C
ISCN -
DB-ID PEX1_000316
Variant remarks -
Reference PubMed: Katagiri 2014
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX1 NM_000466.2 ?/. 5 c.625A>C r.(?) p.(Met209Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000376623 DNA SEQ-NG - WES - 8 LOVD