Genomic variant #0000077852

Individual ID 00049075
Chromosome 14
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.94849346_94849348del
DNA change (hg38) g.94383009_94383011del
Published as g.7689G>A | g.12047T>C | g.7538-7540TTCdel | F75del | M2 backround / Name: M-Malton
ISCN -
DB-ID SERPINA1_000039 See all 4 reported entries
Variant remarks -
Reference PubMed: Curiel 1989
ClinVar ID -
dbSNP ID -
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 +/+ 4 c.227_229del - r.= p.(Phe76del)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000048992 DNA ASO - - SERPINA1 2 George Patrinos