Genomic variant #0000563157

Chromosome 17
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.7483298_7483339del
DNA change (hg38) g.7579980_7580021del
Published as CD68(NM_001040059.1):c.136_177del (p.(Pro47_Gly60del))
ISCN -
DB-ID MPDU1_000007
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_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CD68 NM_001251.2 -?/. - c.220_261del r.(?) p.(Pro74_Gly87del)
EIF4A1 NM_001416.3 -?/. - c.*1494_*1535del r.(=) p.(=)
MPDU1 NM_004870.3 -?/. - c.-3883_-3842del r.(?) p.(=)
SOX15 NM_006942.1 -?/. - c.*8360_*8401del r.(=) p.(=)
SENP3 NM_015670.5 -?/. - c.*8497_*8538del r.(=) p.(=)