Genomic variant #0000148857

Individual ID 00090583
Chromosome 9
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.101594103G>A
DNA change (hg38) g.98831821G>A
Published as -
ISCN -
DB-ID GALNT12_000004 See all 7 reported entries
Variant remarks -
Reference Thibodeau lab (Mayo Clinic)
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00807 View details
Owner Melissa DeRycke




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
GALNT12 NM_024642.4 ?/. - c.781G>A VUS r.(?) p.(Asp261Asn)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000090728 DNA SEQ-NG-I blood - GALNT12 1 Melissa DeRycke