Variant #0000408687 (NC_000009.11:g.101611545A>G, NM_024642.4:c.*171A>G (GALNT12))

Individual ID 00183601
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.101611545A>G
DNA change (hg38) g.98849263A>G
Published as -
ISCN -
DB-ID GALNT12_000008
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 0.031
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Michael Woods
Database submission license No license selected
Created by Michael Woods
Date created 2012-03-05 20:26:00 +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.*171A>G r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000184569 DNA SEQ - - GALNT12 1 Michael Woods


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