View genomic variant #0000000120

Individual ID 00000116
Chromosome 20
Allele Paternal (confirmed)
Affects function (reported) Probably affects function
Affects function (concluded) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.3082632A>C
Published as 2033T>G
Reference Couture et al., Paediatr Child Health 10:41B, 2005; Couture et al., Unpublished
DB-ID AVP_000072
Frequency -
Variant remarks Variant found in all 3 affected compound heterozygotes and in 17 unaffected individuals heterozygous for this variant; not found in 17 other unaffected individuals.
Average frequency (large NGS studies) Variant not found in online data sets
Owner Dr. Daniel Bichet




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     
AVP NM_000490.4 +?/+ 3 c.493T>G X165G r.(?) p.(*165Glyext*?)



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000116 DNA SEQ AVP 2 Dr. Daniel Bichet