Genomic variant #0000282572

Chromosome 17
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.7490810G>A
DNA change (hg38) g.7587492G>A
Published as MPDU1(NM_004870.3):c.685G>A (p.A229T)
ISCN -
DB-ID MPDU1_000006
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) 0.17046 View details
Owner VKGL-NL_Groningen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CD68 NM_001251.2 -/. - c.*5981G>A r.(=) p.(=)
FXR2 NM_004860.3 -/. - c.*4338C>T r.(=) p.(=)
MPDU1 NM_004870.3 -/. - c.685G>A r.(?) p.(Ala229Thr)
SOX15 NM_006942.1 -/. - c.*886C>T r.(=) p.(=)