Genomic variant #0000077978

Individual ID 00049175
Chromosome 14
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.94849199delT
DNA change (hg38) g.94382862delT
Published as c.376delA
ISCN -
DB-ID SERPINA1_000030
Variant remarks -
Reference PubMed: Prins 2008
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner George Patrinos




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SERPINA1 NM_001127701.1 +/+ 4 c.376delA - r.(?) p.(Thr126Profs*11)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000049092 DNA ? - - SERPINA1 1 George Patrinos