Genomic variant #0000528468

Chromosome 6
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.32149140C>T
DNA change (hg38) -
Published as AGER(NM_001136.4):c.1106G>A (p.(Arg369Gln), p.(Arg385Gln), p.(Arg355Gln), p.(=))
ISCN -
DB-ID AGER_000002
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) 0.00237 View details
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
AGER NM_001136.4 -?/. - c.1106G>A likely benign r.(?) p.(Arg369Gln)
PBX2 NM_002586.4 -?/. - c.*5019G>A likely benign r.(=) p.(=)
AGPAT1 NM_006411.3 -?/. - c.-5559G>A likely benign r.(?) p.(=)
RNF5 NM_006913.3 -?/. - c.*1037C>T likely benign r.(=) p.(=)
EGFL8 NM_030652.3 -?/. - c.*13407C>T likely benign r.(=) p.(=)