Genomic variant #0000563164

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.7492619T>C
DNA change (hg38) -
Published as SOX15(NM_006942.1):c.376A>G (p.(Ser126Gly))
ISCN -
DB-ID MPDU1_000013
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.*7790T>C likely benign r.(=) p.(=)
FXR2 NM_004860.3 -?/. - c.*2529A>G likely benign r.(=) p.(=)
MPDU1 NM_004870.3 -?/. - c.*1750T>C likely benign r.(=) p.(=)
SOX15 NM_006942.1 -?/. - c.376A>G likely benign r.(?) p.(Ser126Gly)