Variant #0000408691 (NC_000009.11:g.101570283C>G, GALNT12(NM_024642.4):c.303C>G)

Individual ID 00183604
Chromosome 9
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.101570283C>G
DNA change (hg38) g.98808001C>G
Published as -
ISCN -
DB-ID GALNT12_000018
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00016 View details
Owner Daniel Evans
Database submission license No license selected
Created by Daniel Evans
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GALNT12 NM_024642.4 +?/. - c.303C>G r.(?) p.(His101Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000184572 DNA SEQ - - GALNT12 1 Daniel Evans