Variant #0000621711 (NC_000006.11:g.42946587G>A, PEX6(NM_000287.3):c.302C>T)

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.42946587G>A
DNA change (hg38) g.42978849G>A
Published as PEX6(NM_000287.3):c.302C>T (p.P101L)
ISCN -
DB-ID GNMT_000009
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) Variant not found in online data sets
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.302C>T r.(?) p.(Pro101Leu)
PPP2R5D NM_006245.3 ?/. - c.-5829G>A r.(?) p.(=)
MEA1 NM_014623.2 ?/. - c.*33621C>T r.(=) p.(=)
GNMT NM_018960.4 ?/. - c.*15143G>A r.(=) p.(=)