Variant #0000296925 (NC_000006.11:g.137191043G>A, PEX7(NM_000288.3):c.649G>A)

Chromosome 6
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.137191043G>A
DNA change (hg38) g.136869905G>A
Published as PEX7(NM_000288.4):c.649G>A (p.G217R)
ISCN -
DB-ID PEX7_000006 See all 12 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) 4.0E-5 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX7 NM_000288.3 +/. - c.649G>A r.(?) p.(Gly217Arg)