Genomic variant #0000256621

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.42935284A>G
DNA change (hg38) g.42967546A>G
Published as PEX6(NM_000287.3):c.1706T>C (p.V569A)
ISCN -
DB-ID PEX6_000136
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 8.0E-5 View details
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX6 NM_000287.3 ?/. - c.1706T>C r.(?) p.(Val569Ala)
CNPY3 NM_006586.3 ?/. - c.*28755A>G r.(=) p.(=)
GNMT NM_018960.4 ?/. - c.*3840A>G r.(=) p.(=)