Variant #0000845085 (NC_000009.11:g.101570309G>A, GALNT12(NM_024642.4):c.329G>A)

Individual ID 00406962
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.101570309G>A
DNA change (hg38) g.98808027G>A
Published as -
ISCN -
DB-ID GALNT12_000036
Variant remarks -
Reference PubMed: Jiang 2022
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency >1/309 cases
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00039 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GALNT12 NM_024642.4 +/. - c.329G>A r.(?) p.(Arg110His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000408208 DNA SEQ-NG - 81-gene panel - 1 Johan den Dunnen