Genomic variant #0000089470

Individual ID 00058821
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.118687130_118687131delinsA
DNA change (hg38) -
Published as 118687129_118687131delAGTinsAA
ISCN -
DB-ID CXorf56_000027
Variant remarks 118687130_118687131delinsA
Reference PubMed: Kumar 2016, Journal: Kumar 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Thuong Ha




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
CXorf56 NM_022101.3 -?/. - c.242+7100_242+7101delinsT likely benign r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000058785 DNA SEQ-NG ThuongHa - - 33 Thuong Ha