Variant #0000148864 (NC_000009.11:g.101602372C>T, GALNT12(NM_024642.4):c.1301C>T)

Individual ID 00090590
Chromosome 9
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.101602372C>T
DNA change (hg38) g.98840090C>T
Published as -
ISCN -
DB-ID GALNT12_000027
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) 0.00026 View details
Owner Melissa DeRycke
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GALNT12 NM_024642.4 ?/. - c.1301C>T r.(?) p.(Pro434Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000090735 DNA SEQ-NG-I blood - GALNT12 1 Melissa DeRycke