Variant #0000408668 (NC_000009.11:g.101594103G>A, GALNT12(NM_024642.4):c.781G>A)

Individual ID 00183582
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.101594103G>A
DNA change (hg38) g.98831821G>A
Published as -
ISCN -
DB-ID GALNT12_000004 See all 9 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs41306504
Origin Germline
Segregation -
Frequency 2/206
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.01197 View details
Owner Laura Valle
Database submission license No license selected
Created by Laura Valle
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GALNT12 NM_024642.4 ?/. 4 c.781G>A r.(?) p.(Asp261Asn)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000184550 DNA SEQ - - GALNT12 1 Laura Valle