Variant #0000148862 (NC_000009.11:g.101599284C>T, NM_024642.4:c.1066C>T (GALNT12))

Individual ID 00090588
Chromosome 9
Allele Parent #1
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.101599284C>T
DNA change (hg38) g.98837002C>T
Published as -
ISCN -
DB-ID GALNT12_000025
Variant remarks -
Reference Thibodeau lab (Mayo Clinic)
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner Melissa DeRycke
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2016-11-21 16:06:29 +01:00 (CET)
Date last edited 2025-06-08 16:02:39 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GALNT12 NM_024642.4 ?/. - c.1066C>T r.(?) p.(His356Tyr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000090733 DNA SEQ-NG-I blood - GALNT12 1 Melissa DeRycke


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