Variant #0000408693 (NC_000009.11:g.101589207G>C, GALNT12(NM_024642.4):c.715G>C)

Individual ID 00183606
Chromosome 9
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.101589207G>C
DNA change (hg38) g.98826925G>C
Published as -
ISCN -
DB-ID GALNT12_000020
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 9.0E-5 View details
Owner Daniel Evans
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GALNT12 NM_024642.4 -?/. - c.715G>C r.(?) p.(Glu239Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000184574 DNA SEQ - - GALNT12 1 Daniel Evans