Variant #0000283339 (NC_000009.11:g.101606425C>G, GALNT12(NM_024642.4):c.1392C>G)

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.101606425C>G
DNA change (hg38) g.98844143C>G
Published as GALNT12(NM_024642.4):c.1392C>G (p.P464=)
ISCN -
DB-ID GALNT12_000032
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) 0.00313 View details
Owner VKGL-NL_VUmc
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GALNT12 NM_024642.4 -?/. - c.1392C>G r.(?) p.(Pro464=)