Variant #0000077897 (NC_000014.8:g.94849201C>T, NM_001127701.1:c.374G>A (SERPINA1))

Individual ID 00049107
Chromosome 14
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.94849201C>T
DNA change (hg38) g.94382864C>T
Published as g.11940G>A | g.7689G>A | g.12047A>C | R125H | E366L | E400D / Name: Z-Augsburg/Tun
ISCN -
DB-ID SERPINA1_000003 See all 35 reported entries
Variant remarks -
Reference PubMed: Weidinger 1985
ClinVar ID -
dbSNP ID rs709932
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.16021 View details
Owner George Patrinos
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Date created 2015-09-08 16:06:25 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

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     
0000049024 DNA;protein IEF - - SERPINA1 3 George Patrinos


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