Genomic variant #0000077877

Individual ID 00049095
Chromosome 14
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.94849558G>A
DNA change (hg38) g.94383221G>A
Published as g.7332C>T | S6L / Name: Z-Wrexham
ISCN -
DB-ID SERPINA1_000054
Variant remarks -
Reference PubMed: Graham 1990
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00023 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.17C>T - r.(?) p.(Ser6Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000049012 DNA SEQ - - SERPINA1 1 George Patrinos