Genomic variant #0000077862

Individual ID 00049082
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.94849403C>T
DNA change (hg38) g.94383066C>T
Published as g.7487G>A | A58T / Name: M5-Karlsruhe
ISCN -
DB-ID SERPINA1_000043
Variant remarks -
Reference PubMed: Faber 1994
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.172G>A - r.= p.(Ala58Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000048999 DNA SEQ - - SERPINA1 1 George Patrinos