Variant #0000408664 (NC_000009.11:g.101570336A>T, GALNT12(NM_024642.4):c.356A>T)

Individual ID 00183578
Chromosome 9
Allele Unknown
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.101570336A>T
DNA change (hg38) g.98808054A>T
Published as -
ISCN -
DB-ID GALNT12_000010 See all 3 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs10987769
Origin Germline
Segregation -
Frequency 0.018
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.05801 View details
Owner Michael Woods
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GALNT12 NM_024642.4 ?/. 1 c.356A>T r.(?) p.(Glu119Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000184546 DNA SEQ - - GALNT12 1 Michael Woods