Genomic variant #0000130287

Individual ID 00081089
Chromosome 3
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.183963079C>T
DNA change (hg38) g.184245291C>T
Published as -
ISCN -
DB-ID ALG3_000018 See all 2 reported entries
Variant remarks -
Reference Trujillano et al., submitted
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00016 View details
Owner Daniel Trujillano
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ALG3 NM_005787.5 +/. - c.512G>A r.(?) p.(Arg171Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000081201 DNA SEQ;SEQ-NG - - ALG3 1 Daniel Trujillano