Variant #0009718356 (NC_000016.9:g.16256867C>T, NM_001171.5:c.3489delGinsA (ABCC6))

Chromosome 16
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.16256867C>T
DB-ID -
dbSNP ID rs202000035
gnomAD frequency 16/246140
gnomAD homozygote count 0/123051
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ABCC6 NM_001171.5 ./. c.3489delGinsA r.(?) p.(Pro1163=)