Genomic variant #0000335908

Chromosome X
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.150908168G>T
DNA change (hg38) -
Published as CNGA2(NM_005140.1):c.338G>T (p.(Gly113Val))
ISCN -
DB-ID CNGA2_000016 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.0054 View details
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

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