Genomic variant #0000880432

Individual ID 00000001
Chromosome 10
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.12112833C>T
Reference -
DB-ID DHTKD1_000006
dbSNP ID rs1701470
Frequency 0.3676
Homozygous 51
Heterozygote 147
Average frequency (large NGS studies) Retrieve
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DHTKD1 NM_018706.6 ./. - c.2155-67C>T r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA arrayCNV - 904861 Admin