Variant #0000283341 (NC_000009.11:g.101569998G>T, GALNT12(NM_024642.4):c.18G>T)

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.101569998G>T
DNA change (hg38) g.98807716G>T
Published as GALNT12(NM_024642.4):c.18G>T (p.A6=)
ISCN -
DB-ID GALNT12_000031
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL_VUmc
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GALNT12 NM_024642.4 -?/. - c.18G>T r.(?) p.(Ala6=)