Variant #0000305501 (NC_000006.11:g.42946076C>A, PEX6(NM_000287.3):c.813G>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.42946076C>A
DNA change (hg38) g.42978338C>A
Published as PEX6(NM_000287.3):c.813G>T (p.A271=)
ISCN -
DB-ID PEX6_000143 See all 3 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) 0.00137 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX6 NM_000287.3 -/. - c.813G>T r.(?) p.(Ala271=)
PPP2R5D NM_006245.3 -/. - c.-6340C>A r.(?) p.(=)
MEA1 NM_014623.2 -/. - c.*34132G>T r.(=) p.(=)
GNMT NM_018960.4 -/. - c.*14632C>A r.(=) p.(=)