Full data view for gene GALNT12


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

9 entries on 1 page. Showing entries 1 - 9.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

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VIP     

Data_av     

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Panel size     

Owner     
?/. - c.781G>A r.(?) p.(Asp261Asn) Parent #1 - VUS g.101594103G>A g.98831821G>A - - GALNT12_000004 - 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.781G>A r.(?) p.(Asp261Asn) Parent #1 - VUS g.101594103G>A g.98831821G>A - - GALNT12_000004 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - DNA SEQ-NG-I blood - Healthy/Control - - gene panel study on controls - - United States - - 0 data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 6 Melissa DeRycke
?/. - c.781G>A r.(?) p.(Asp261Asn) Both (homozygous) - VUS g.101594103G>A g.98831821G>A - - GALNT12_000004 - 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.781G>A r.(?) p.(Asp261Asn) Unknown - benign g.101594103G>A g.98831821G>A GALNT12(NM_024642.4):c.781G>A (p.D261N) - GALNT12_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 4 c.781G>A r.(?) p.(Asp261Asn) Unknown - VUS g.101594103G>A g.98831821G>A - - GALNT12_000004 - - - rs41306504 Germline - 0.015 - 0 - DNA SEQ - - CRC - - - - - Canada - - 0 - - 1 Michael Woods
?/. 4 c.781G>A r.(?) p.(Asp261Asn) Unknown - VUS g.101594103G>A g.98831821G>A - - GALNT12_000004 - - - rs41306504 Germline - 2/206 - 0 - DNA SEQ - - HNPCC - - - - - - - - 0 - - 1 Laura Valle
?/. 4 c.781G>A r.(?) p.(Asp261Asn) Unknown - VUS g.101594103G>A g.98831821G>A - - GALNT12_000004 - - - rs41306504 Germline - 2/206 - 0 - DNA SEQ - - HNPCC - - - - - - - - 0 - - 1 Laura Valle
-/. - c.781G>A r.(?) p.(Asp261Asn) Parent #1 - benign g.101594103G>A g.98831821G>A - - GALNT12_000004 68 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41306504 Germline - 68/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 68 Mohammed Faruq
-/. - c.781G>A r.(?) p.(Asp261Asn) Both (homozygous) - benign g.101594103G>A g.98831821G>A - - GALNT12_000004 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41306504 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
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