Variant #0000283342 (NC_000009.11:g.101594103G>A, GALNT12(NM_024642.4):c.781G>A)

Chromosome 9
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.101594103G>A
DNA change (hg38) g.98831821G>A
Published as GALNT12(NM_024642.4):c.781G>A (p.D261N)
ISCN -
DB-ID GALNT12_000004 See all 9 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) 0.01197 View details
Owner VKGL-NL_VUmc
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GALNT12 NM_024642.4 -/. - c.781G>A r.(?) p.(Asp261Asn)