View genomic variant #0000000009

Individual ID 00000009
Chromosome 20
Allele Maternal (confirmed)
Affects function (reported) Probably affects function
Affects function (concluded) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.3084620C>T
Published as g.279G>A in M11166.1
Reference Ito et al. (1993), Repaske et al. (1996)
DB-ID AVP_000006 See all 12 reported entries
Frequency -
Variant remarks Not in 100 control chromosomes tested with Acc II restriction endonuclease analysis.
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 +?/+ 1 c.55G>A - r.(?) p.(Ala19Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000009 DNA SEQ AVP 1 LOVD