Full data view for gene GALNT12


Information The variants shown are described using the NM_024642.4 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.868G>T r.(?) p.(Val290Phe) Parent #1 - VUS g.101594190G>T g.98831908G>T - - GALNT12_000023 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - 0 data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
+?/. - c.868G>T r.(?) p.(Val290Phe) Unknown - likely pathogenic g.101594190G>T g.98831908G>T - - GALNT12_000023 - - - - Germline - - - 0 - DNA SEQ - - cancer, colon - - Population-based incident CRC in family screening - - Canada Newfoundland & Labrador - 0 - - 479 Daniel Evans
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