Variant #0000408685 (NC_000009.11:g.101611335G>C, NM_024642.4:c.1707G>C (GALNT12))

Individual ID 00183599
Chromosome 9
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.101611335G>C
DNA change (hg38) g.98849053G>C
Published as -
ISCN -
DB-ID GALNT12_000006
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs2273846
Origin Germline
Segregation -
Frequency 0.043
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.08611 View details
Owner Michael Woods
Database submission license No license selected
Created by Michael Woods
Date created 2012-03-05 20:22:00 +01:00 (CET)
Date last edited 2019-02-22 12:25:11 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GALNT12 NM_024642.4 ?/. 10 c.1707G>C r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000184567 DNA SEQ - - GALNT12 1 Michael Woods


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