Variant #0000077974 (NC_000014.8:g.94856914G>A, NM_001127701.1:c.-458C>T (SERPINA1))

Individual ID 00049171
Chromosome 14
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.94856914G>A
DNA change (hg38) g.94390577G>A
Published as -
ISCN -
DB-ID SERPINA1_000058
Variant remarks -
Reference PubMed: Chappell 2006
ClinVar ID -
dbSNP ID rs8004738
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
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 2019-01-31 13:22:14 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SERPINA1 NM_001127701.1 ?/? 1 c.-458C>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000049088 DNA ? - - SERPINA1 1 George Patrinos


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