Genomic variant #0000077887

Individual ID 00049102
Chromosome 14
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.94849201C>T
DNA change (hg38) g.94382864C>T
Published as g.9664T>C | g.7689G>A | g.12047A>C | R125H | L300P | E400D, / Name: N-Nagato
ISCN -
DB-ID SERPINA1_000003 See all 35 reported entries
Variant remarks -
Reference PubMed: 12935698
ClinVar ID -
dbSNP ID rs709932
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.12156 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.374G>A - r.= p.(Arg125His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000049019 DNA; protein SEQ;SSCA; IEF - - SERPINA1 3 George Patrinos