View genomic variant #0000000029

Individual ID 00000029
Chromosome 20
Allele Unknown
Affects function (reported) Probably affects function
Affects function (concluded) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.3082782_3082783delinsAC
Published as g.2106_2107delinsGT in M11166.1
Reference Rittig et al. (1996)
DB-ID AVP_000027
Frequency -
Variant remarks Mutation found in 2-of-2 affected, 0-of-0 unaffected 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 +?/+ 3 c.342_343delinsGT - r.(?) p.(Glu115*)



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000029 DNA SEQ AVP 1 LOVD