Variant #0000351357 (NC_000012.11:g.7343197_7343241del, PEX5(NM_000319.4):c.147+77_147+121del)

Chromosome 12
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.7343197_7343241del
DNA change (hg38) g.7190601_7190645del
Published as PEX5(NM_000319.4):c.136_147+33del (p.?), PEX5(NM_001131023.1):c.148_192del (p.V50_A64del), PEX5(NM_001131025.2):c.136_147+33del
ISCN -
DB-ID PEX5_000032 See all 4 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX5 NM_000319.4 -/. - c.147+77_147+121del r.(=) p.(=)