Variant #0000611741 (NC_000009.11:g.101569985G>A, GALNT12(NM_024642.4):c.5G>A)

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.101569985G>A
DNA change (hg38) g.98807703G>A
Published as -
ISCN -
DB-ID GALNT12_000033
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL_Nijmegen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GALNT12 NM_024642.4 ?/. - c.5G>A r.(?) p.(Trp2Ter)