Variant #0000408677 (NC_000009.11:g.101594229G>A, GALNT12(NM_024642.4):c.907G>A)

Individual ID 00183591
Chromosome 9
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.101594229G>A
DNA change (hg38) g.98831947G>A
Published as -
ISCN -
DB-ID GALNT12_000001 See all 13 reported entries
Variant remarks polyphen:probably damaging; SIFT: Not tolerated
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00125 View details
Owner Michael Woods
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GALNT12 NM_024642.4 +/. 4 c.907G>A r.(?) p.(Asp303Asn)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000184559 DNA SEQ - - GALNT12 1 Michael Woods