View genomic variant #0000000054

Individual ID 00000054
Chromosome 20
Allele Unknown
Affects function (reported) Probably affects function
Affects function (concluded) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.3083004C>G
Published as g.1892G>C in M11166.1
Reference Elias et al. (2003)
DB-ID AVP_000037
Frequency -
Variant remarks Mutation found in 3-of-3 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 +?/+ 2 c.295G>C - r.(?) p.(Ala99Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000054 DNA SEQ AVP 1 LOVD