Genomic variant #0000077967

Individual ID 00049166
Chromosome 14
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.94849460G>T
DNA change (hg38) g.94383123G>T
Published as c.115C-A | H39N
ISCN -
DB-ID SERPINA1_000045 See all 2 reported entries
Variant remarks -
Reference PubMed: Mahadeva 2000
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 8.0E-5 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.115C>A - r.(?) p.(His39Asn)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000049083 DNA ? - - SERPINA1 1 George Patrinos