View genomic variant #0000000083

Individual ID 00000083
Chromosome 20
Allele Paternal (confirmed)
Affects function (reported) Probably affects function
Affects function (concluded) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.3082779A>C
Published as g.2110T>G in M11166.1
Reference Abbes et al. (2000), van den Akker et al. (2000), Nijenhuis et al. (2001)
DB-ID AVP_000059
Frequency -
Variant remarks 'All affected subjects were heterozygous for the mutation, whereas none of the healthy family members displayed the mutation.'
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.346T>G - r.(?) p.(Cys116Gly)



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000083 DNA SEQ AVP 1 LOVD