Genomic variant #0000077875

Individual ID 00049093
Chromosome 14
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.94849447T>G
DNA change (hg38) g.94383110T>G
Published as g.7443A>C | D43A / Name: P-Yonago
ISCN -
DB-ID SERPINA1_000044
Variant remarks -
Reference PubMed: 12935698
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.128A>C - r.= p.(Asp43Ala)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000049010 DNA; protein SEQ;SSCA; IEF - - SERPINA1 1 George Patrinos