Variant #0000089461 (NC_000023.10:g.115591724_115591726delinsCC, SLC6A14(NM_007231.3):c.*1603_*1605delinsCC)

Individual ID 00058821
Chromosome X
Allele Maternal (confirmed)
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.115591724_115591726delinsCC
DNA change (hg38) -
Published as 115591723_115591726delTTCTinsTCC
ISCN -
DB-ID SLC6A14_000054
Variant remarks -
Reference PubMed: Kumar 2016, Journal: Kumar 2016
ClinVar ID -
dbSNP ID rs5905179
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Thuong Ha
Database submission license No license selected
Created by Thuong Ha
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC6A14 NM_007231.3 -?/. - c.*1603_*1605delinsCC r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

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