Genomic variant #0000283340

Chromosome 9
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.101608297C>T
DNA change (hg38) -
Published as GALNT12(NM_024642.4):c.1497C>T (p.N499=)
ISCN -
DB-ID GALNT12_000005 See all 3 reported entries
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) 0.002 View details
Owner VKGL-NL_VUmc
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
GALNT12 NM_024642.4 -?/. - c.1497C>T likely benign r.(?) p.(=)