Variant #0000296921 (NC_000006.11:g.42946358T>G, PEX6(NM_000287.3):c.531A>C)

Chromosome 6
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.42946358T>G
DNA change (hg38) g.42978620T>G
Published as PEX6(NM_000287.3):c.531A>C (p.P177=), PEX6(NM_000287.4):c.531A>C (p.P177=)
ISCN -
DB-ID PEX6_000144 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 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
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     
PEX6 NM_000287.3 -?/. - c.531A>C r.(?) p.(Pro177=)
PPP2R5D NM_006245.3 -?/. - c.-6058T>G r.(?) p.(=)
MEA1 NM_014623.2 -?/. - c.*33850A>C r.(=) p.(=)
GNMT NM_018960.4 -?/. - c.*14914T>G r.(=) p.(=)