Variant #0000408696 (NC_000009.11:g.101594190G>T, GALNT12(NM_024642.4):c.868G>T)

Individual ID 00183609
Chromosome 9
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.101594190G>T
DNA change (hg38) g.98831908G>T
Published as -
ISCN -
DB-ID GALNT12_000023 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 9.0E-5 View details
Owner Daniel Evans
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GALNT12 NM_024642.4 +?/. - c.868G>T r.(?) p.(Val290Phe)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000184577 DNA SEQ - - GALNT12 1 Daniel Evans