View genomic variant #0000000032

Individual ID 00000032
Chromosome 20
Allele Paternal (confirmed)
Affects function (reported) Probably affects function
Affects function (concluded) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.3084672delC
Published as g.227delG in M11166.1;p.(Met1_Thr4del)
Reference Rutishauser et al. (1996)
DB-ID AVP_000023
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 +?/+ 1 c.3delG - r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000032 DNA SEQ AVP 1 LOVD