Variant #0000686491 (NC_000001.10:g.2337967G>C, PEX10(NM_153818.1):c.928C>G)

Individual ID 00310021
Chromosome 1
Allele Parent #2
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.2337967G>C
DNA change (hg38) -
Published as 870 (H290D)
ISCN -
DB-ID PEX10_000004
Variant remarks -
Reference PubMed: Steinberg 2004
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 Johan den Dunnen
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     
PEX10 NM_153818.1 +/. - c.928C>G r.(?) p.(His310Asp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000311169 DNA SEQ - - PEX10 2 Nancy Braverman