Genomic variant #0000528885

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.42946864G>A
DNA change (hg38) g.42979126G>A
Published as PEX6(NM_000287.3):c.25C>T (p.L9=)
ISCN -
DB-ID GNMT_000007
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.00016 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.25C>T r.(?) p.(Leu9=)
PPP2R5D NM_006245.3 -?/. - c.-5552G>A r.(?) -
MEA1 NM_014623.2 -?/. - c.*33344C>T r.(=) -
GNMT NM_018960.4 -?/. - c.*15420G>A r.(=) -