Variant #0000408692 (NC_000009.11:g.101585591T>C, GALNT12(NM_024642.4):c.425T>C)

Individual ID 00183605
Chromosome 9
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.101585591T>C
DNA change (hg38) g.98823309T>C
Published as -
ISCN -
DB-ID GALNT12_000019
Variant remarks variant not associated with phenotype
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Daniel Evans
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GALNT12 NM_024642.4 +/. - c.425T>C r.(?) p.(Ile142Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000184573 DNA SEQ - - GALNT12 1 Daniel Evans