View genomic variant #0000000145

Individual ID 00000139
Chromosome 20
Allele Unknown
Affects function (reported) Not classified
Affects function (concluded) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.=
Published as Variant not detected.
Reference Tian et al. (2016)
DB-ID AVP_000058 See all 2 reported entries
Frequency -
Variant remarks Need to confirm if a deletion was ruled out.
Average frequency (large NGS studies) Genomic location of variant could not be determined
Owner LOVD




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     
AVP NM_000490.4 ./. 1 c.= - r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000139 DNA SEQ AVP 1 LOVD