Genomic variant #0000148863

Individual ID 00090589
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.101599419C>T
DNA change (hg38) g.98837137C>T
Published as -
ISCN -
DB-ID GALNT12_000026
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) Variant not found in online data sets
Owner Melissa DeRycke




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
GALNT12 NM_024642.4 ?/. - c.1201C>T VUS r.(?) p.(Arg401Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000090734 DNA SEQ-NG-I blood - GALNT12 1 Melissa DeRycke