Genomic variant #0000089471

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.119043497_119043498insA
DNA change (hg38) -
Published as -
ISCN -
DB-ID AKAP14_000004
Variant remarks -
Reference PubMed: Kumar 2016, Journal: Kumar 2016
ClinVar ID -
dbSNP ID rs59646125
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Thuong Ha
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
AKAP14 NM_178813.5 -?/. - c.262-5165_262-5164insA likely benign r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

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