Genomic variant #0000393325

Individual ID 00172585
Chromosome X
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.150908168G>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID CNGA2_000016 See all 2 reported entries
Variant remarks recurrent, found 2 times
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 2/208 cases
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.0054 View details
Owner Lucy Raymond




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
CNGA2 NM_005140.1 ?/. - c.338G>T - r.(?) p.(Gly113Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000173468 DNA SEQ - - CNGA2 1 Lucy Raymond