View genomic variant #0000000052

Individual ID 00000052
Chromosome 20
Allele Paternal (inferred)
Affects function (reported) Probably affects function
Affects function (concluded) Probably affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.3082976del
Published as g.1920delG
Reference Tae et al. (2005)
DB-ID AVP_000035
Frequency -
Variant remarks Mutation found in 3-of-3 affected individuals.
Average frequency (large NGS studies) Variant not found in online data sets
Owner LOVD




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     
AVP NM_000490.4 +?/+? 2i c.322+1del IVS2+1 delG r.spl? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000052 DNA SEQ - 1 Mary Fujiwara