View genomic variant #0000000125

Individual ID 00000119
Chromosome 20
Allele Unknown
Affects function (reported) Does not affect function
Affects function (concluded) Does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.3082650C>T
Published as -
Reference Hedrich et al. (2008)
DB-ID AVP_000075
Frequency -
Variant remarks In Family 1, variant present in 3 siblings (2 affected, 1 unaffected). Not found in 100 unrelated healthy 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 -/- 3 c.475G>A - r.(=) p.(Ala159Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000119 DNA SEQ AVP 1 LOVD