Variant #0006566877 (NC_000010.10:g.52580262A>C, NM_001198819.1:c.891+50delTinsG (A1CF))

Chromosome 10
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.52580262A>C
DB-ID -
dbSNP ID rs773430797
gnomAD frequency 2/229504
gnomAD homozygote count 0/114747
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     
A1CF NM_001198818.1 ./. c.867+50delTinsG r.(=) p.(=)
A1CF NM_001198819.1 ./. c.891+50delTinsG r.(=) p.(=)
A1CF NM_001198820.1 ./. c.891+50delTinsG r.(=) p.(=)
A1CF NM_014576.3 ./. c.867+50delTinsG r.(=) p.(=)
A1CF NM_138932.2 ./. c.867+50delTinsG r.(=) p.(=)
A1CF NM_138933.2 ./. c.891+50delTinsG r.(=) p.(=)