Variant #0000720943 (NC_000006.11:g.42946204T>C, PEX6(NM_000287.3):c.685A>G)

Chromosome 6
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.42946204T>C
DNA change (hg38) -
Published as PEX6(NM_000287.3):c.685A>G (p.R229G)
ISCN -
DB-ID GNMT_000005
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) 0.00042 View details
Owner VKGL-NL_VUmc
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_VUmc
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX6 NM_000287.3 ?/. - c.685A>G r.(?) p.(Arg229Gly)
PPP2R5D NM_006245.3 ?/. - c.-6212T>C r.(?) p.(=)
MEA1 NM_014623.2 ?/. - c.*34004A>G r.(=) p.(=)
GNMT NM_018960.4 ?/. - c.*14760T>C r.(=) p.(=)