Variant #0000622100 (NC_000009.11:g.101594219A>G, GALNT12(NM_024642.4):c.897A>G)

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.101594219A>G
DNA change (hg38) g.98831937A>G
Published as GALNT12(NM_024642.4):c.897A>G (p.=)
ISCN -
DB-ID GALNT12_000034
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) 0.00925 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.897A>G r.(?) p.(Gln299=)