Variant #0000528683 (NC_000006.11:g.33257650A>G, RGL2(NM_001243738.1):c.*2229T>C)

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.33257650A>G
DNA change (hg38) g.33289873A>G
Published as PFDN6(NM_001185181.2):c.17A>G (p.(Gln6Arg))
ISCN -
DB-ID PFDN6_000001
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) Variant not found in online data sets
Owner VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RGL2 NM_001243738.1 -?/. - c.*2229T>C r.(=) p.(=)
WDR46 NM_005452.5 -?/. - c.-703T>C r.(?) p.(=)
PFDN6 NM_014260.3 -?/. - c.17A>G r.(?) p.(Gln6Arg)