Genomic variant #0000077866

Individual ID 00049086
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.94849303C>T
DNA change (hg38) g.94382966C>T
Published as g.7587G>A | g.9475T>C | E91G | V237A / Name: M-Mineral springs
ISCN -
DB-ID SERPINA1_000036
Variant remarks -
Reference PubMed: Curiel 1990
ClinVar ID -
dbSNP ID rs28931568
Origin Unknown
Segregation -
Frequency -
Re-site AvaII+
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.272G>A - r.= p.(Gly91Glu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000049003 DNA Southern - - SERPINA1 2 George Patrinos