Genomic variant #0000075184

Individual ID 00000029
Chromosome 13
Allele Both (homozygous)
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.31891746G>A
DNA change (hg38) g.31317609G>A
Published as -
ISCN -
DB-ID B3GLCT_000048 See all 6 reported entries
Variant remarks -
Reference PubMed: Almomani 2011
ClinVar ID -
dbSNP ID rs041073
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.65539 View details
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
B3GLCT NM_194318.3 ?/. 13 c.1108G>A - r.(?) p.(Glu370Lys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000029 DNA NGS - - ALG9, ASPM, B3GLCT, BBS1, CBS, CC2D1A, CDK5RAP2, DLG3, DNMT3B, DPM1, DPP3, GLI3, JAG1, KRAS, MECP2, MPDU1, NLGN4X, NSD1, PHF8, PMM2, RAI1, REST, SATB2, SCN8A, SHANK3, SLC35C1, TCF4, TSC1, UPF3B, ZEB2, ZNF41 46 LOVD-team, but with Curator vacancy