Genomic variant #0000694653

Individual ID 00000001
Chromosome 18
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.77464715G>A
Reference -
DB-ID CTDP1_000028
dbSNP ID rs2242176
Frequency 0.027
Allele Count 14
Allele Number 516
Combined Depth 4019
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.03575 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CTDP1 NM_004715.4 ./. - c.622-52G>A r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin