Genomic variant #0000000087

Individual ID 00000001
Chromosome 1
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.9890081A>G
Reference -
DB-ID CTNNBIP1_000001
dbSNP ID rs946276
Frequency 0.9647
Homozygous 316
Heterozygote 22
Average frequency (large NGS studies) Variant not found in online data sets
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CTNNBIP1 NM_020248.2 ./. - c.-143-6343T>C - -



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA arrayCNV - 904861 Admin