Genomic variant #0000788554

Individual ID 00000001
Chromosome 19
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.1064485C>T
Reference -
DB-ID ABCA7_000005
dbSNP ID rs4147932
Frequency 0.7162
Homozygous 182
Heterozygote 121
Average frequency (large NGS studies) Retrieve
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCA7 NM_019112.3 ./. - c.6044+232C>T - -



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA arrayCNV - 904861 Admin