Genomic variant #0000305500

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.42946482G>T
DNA change (hg38) g.42978744G>T
Published as PEX6(NM_000287.3):c.407C>A (p.P136Q)
ISCN -
DB-ID PEX6_000145
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) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX6 NM_000287.3 -?/. - c.407C>A r.(?) p.(Pro136Gln)
PPP2R5D NM_006245.3 -?/. - c.-5934G>T r.(?) p.(=)
MEA1 NM_014623.2 -?/. - c.*33726C>A r.(=) p.(=)
GNMT NM_018960.4 -?/. - c.*15038G>T r.(=) p.(=)