Variant #0000610049 (NC_000006.11:g.137187853C>T, PEX7(NM_000288.3):c.615C>T)

Chromosome 6
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.137187853C>T
DNA change (hg38) g.136866715C>T
Published as PEX7(NM_000288.3):c.615C>T (p.D205=)
ISCN -
DB-ID PEX7_000074 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00095 View details
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX7 NM_000288.3 -/. - c.615C>T r.(?) p.(Asp205=)