Variant #0000686359 (NC_000002.11:g.61275670T>C, PEX13(NM_002618.3):c.977T>C)

Individual ID 00309923
Chromosome 2
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.61275670T>C
DNA change (hg38) -
Published as -
ISCN -
DB-ID PEX13_000001
Variant remarks -
Reference PubMed: Shimozawa 1999
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner Nancy Braverman
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX13 NM_002618.3 +/. - c.977T>C r.977u>c p.Ile326Thr



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000311070 DNA;RNA RT-PCR;SEQ - - PEX13 1 Nancy Braverman