Variant #0000408680 (NC_000009.11:g.101599405A>G, GALNT12(NM_024642.4):c.1187A>G)

Individual ID 00183594
Chromosome 9
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.101599405A>G
DNA change (hg38) g.98837123A>G
Published as -
ISCN -
DB-ID GALNT12_000002
Variant remarks polyphen:probably damaging; SIFT: Not tolerated
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Michael Woods
Database submission license No license selected
Created by Michael Woods
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GALNT12 NM_024642.4 +/. 6 c.1187A>G r.(?) p.(Tyr396Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000184562 DNA SEQ - - GALNT12 1 Michael Woods