Genomic variant #0000077863

Individual ID 00049083
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.94849369G>A
DNA change (hg38) g.94383032G>A
Published as g.7521C>T | S69F / Name: M6-Bonn
ISCN -
DB-ID SERPINA1_000040
Variant remarks -
Reference PubMed: Faber 1994
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00015 View details
Owner George Patrinos




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SERPINA1 NM_001127701.1 -/- 4 c.206C>T - r.= p.(Ser69Phe)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000049000 DNA SEQ - - SERPINA1 1 George Patrinos