Genomic variant #0000077974

Individual ID 00049171
Chromosome 14
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.94856914G>A
DNA change (hg38) g.94390577G>A
Published as -
ISCN -
DB-ID SERPINA1_000058
Variant remarks -
Reference PubMed: Chappell 2006
ClinVar ID -
dbSNP ID rs8004738
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 ?/? 1 c.-458C>T - r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000049088 DNA ? - - SERPINA1 1 George Patrinos