Genomic variant #0000000072

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.7758257A>C
Reference -
DB-ID CAMTA1_000088
dbSNP ID rs12093175
Frequency 0.9441
Homozygous 306
Heterozygote 28
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     
CAMTA1 NM_015215.3 ./. - c.4989+2589A>C - -



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA arrayCNV - 904861 Admin