View genomic variant #0000000132

Individual ID 00000126
Chromosome 20
Allele Unknown
Affects function (reported) Probably affects function
Affects function (concluded) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.3082782C>A
Published as g.2107G>T in M11166.1
Reference Bullmann et al. (2002)
DB-ID AVP_000079
Frequency -
Variant remarks Variant found in 3-of-3 affected; not found in 2-of-2 unaffected or in healthy controls.
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.343G>T - r.(?) p.(Glu115*)



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000126 DNA SEQ AVP 1 LOVD