Genomic variant #0000077850

Individual ID 00049073
Chromosome 14
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.94849388G>A
DNA change (hg38) g.94383051G>A
Published as g.7502C>T | R63C / Name: I
ISCN -
DB-ID SERPINA1_000005 See all 6 reported entries
Variant remarks -
Reference PubMed: Graham 1989
ClinVar ID -
dbSNP ID rs28931570
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00161 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.187C>T - r.(?) p.(Arg63Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000048990 DNA ? - - SERPINA1 1 George Patrinos