Variant #0000438962 (NC_000003.11:g.151545958T>C, AADAC(NM_001086.2):c.1198T>C)

Individual ID 00207898
Chromosome 3
Allele Paternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.151545958T>C
DNA change (hg38) g.151828170T>C
Published as -
ISCN -
DB-ID AADAC_000001
Variant remarks -
Reference PubMed: Vadgama 2019, Journal: Vadgama 2019
ClinVar ID -
dbSNP ID rs61733692
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00343 View details
Owner Nirmal Vadgama
Database submission license No license selected
Created by Nirmal Vadgama
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AADAC NM_001086.2 +?/. 5 c.1198T>C r.(?) p.(*400Glnext*1)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000208940 DNA SEQ-NG-I Blood WES - 2 Nirmal Vadgama