Variant #0007804261 (NC_000012.11:g.9223125T>C, NM_000014.4:c.4153A>G (A2M))

Chromosome 12
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.9223125T>C
DB-ID -
dbSNP ID rs765840970
gnomAD frequency 3/246082
gnomAD homozygote count 0/123038
Average frequency (gnomAD v.2.1.1) Retrieve
Database submission license No license selected
Created by LOVD
Date created 2017-02-27 00:00:00 +01:00 (CET)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
A2M NM_000014.4 ./. c.4153A>G r.(?) p.(Met1385Val)
A2M-AS1 NR_026971.1 ./. n.*2474T>C r.(=) p.(=)