Genomic variant #0000265439

Chromosome 9
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.130698029G>C
DNA change (hg38) -
Published as DPM2(NM_003863.3):c.227C>G (p.T76S)
ISCN -
DB-ID DPM2_000001 See all 2 reported entries
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) 0.8044 View details
Owner VKGL-NL_AMC




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
FAM102A NM_001035254.2 -/. - c.*7442C>G benign r.(=) p.(=)
DPM2 NM_003863.3 -/. - c.227C>G benign r.(?) p.(Thr76Ser)
PIP5KL1 NM_173492.1 -/. - c.-8469C>G benign r.(?) p.(=)