Genomic variant #0000563161

Chromosome 17
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.7489351T>C
DNA change (hg38) -
Published as MPDU1(NM_004870.3):c.257T>C (p.L86S)
ISCN -
DB-ID MPDU1_000011
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




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
CD68 NM_001251.2 -?/. - c.*4522T>C likely benign r.(=) p.(=)
MPDU1 NM_004870.3 -?/. - c.257T>C likely benign r.(?) p.(Leu86Ser)
SOX15 NM_006942.1 -?/. - c.*2345A>G likely benign r.(=) p.(=)