Variant #0000610354 (NC_000006.11:g.42946073_42946076dup, PEX6(NM_000287.3):c.814_817dup)

Chromosome 6
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.42946073_42946076dup
DNA change (hg38) g.42978335_42978338dup
Published as -
ISCN -
DB-ID GNMT_000008
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_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX6 NM_000287.3 +/. - c.814_817dup r.(?) p.(Val273AlafsTer9)
PPP2R5D NM_006245.3 +/. - c.-6343_-6340dup r.(?) p.(=)
MEA1 NM_014623.2 +/. - c.*34133_*34136dup r.(=) p.(=)
GNMT NM_018960.4 +/. - c.*14629_*14632dup r.(=) p.(=)