Full data view for gene GALNT12


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

13 entries on 1 page. Showing entries 1 - 13.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

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?/. - c.907G>A VUS r.(?) p.(Asp303Asn) Parent #1 g.101594229G>A g.98831947G>A - - GALNT12_000001 - 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 - 1 Melissa DeRycke
?/. - c.907G>A VUS r.(?) p.(Asp303Asn) Parent #1 g.101594229G>A g.98831947G>A - - GALNT12_000001 - 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 - 2 Melissa DeRycke
+/. 4 c.907G>A pathogenic r.(?) p.(Asp303Asn) Unknown g.101594229G>A - - - GALNT12_000001 polyphen:probably damaging; SIFT: Not tolerated - - - Germline - - - 0 - DNA SEQ - - cancer, rectal - - - ? - Canada - - 0 - - 1 Michael Woods
+/. 4 c.907G>A pathogenic r.(?) p.(Asp303Asn) Unknown g.101594229G>A - - - GALNT12_000001 polyphen:probably damaging; SIFT: Not tolerated - - - Germline - - - 0 - DNA SEQ - - cancer, rectal - - - F - Canada - - 0 - - 1 Michael Woods
+/. 4 c.907G>A pathogenic r.(?) p.(Asp303Asn) Unknown g.101594229G>A - - - GALNT12_000001 polyphen:probably damaging; SIFT: Not tolerated - - - Germline - - - 0 - DNA SEQ - - CRC - - DNA was not available from two CRC in family affected sisters of the proband, although a son of one of them had CRC in family at age 57 years but did not carry the variant. M - Canada - - 0 - - 1 Michael Woods
+/. 4 c.907G>A pathogenic r.(?) p.(Asp303Asn) Unknown g.101594229G>A - - - GALNT12_000001 polyphen:probably damaging; SIFT: Not tolerated - - - Germline - - - 0 - DNA SEQ - - CRC - - - F - Canada - - 0 - - 1 Michael Woods
+/. 4 c.907G>A pathogenic r.(?) p.(Asp303Asn) Unknown g.101594229G>A - - - GALNT12_000001 polyphen:probably damaging; SIFT: Not tolerated - - - Germline - - - 0 - DNA SEQ - - ? - - - M - Canada - - 0 - - 1 Michael Woods
+/. 4 c.907G>A pathogenic r.(?) p.(Asp303Asn) Unknown g.101594229G>A - - - GALNT12_000001 polyphen:probably damaging; SIFT: Not tolerated - - - Germline - - - 0 - DNA SEQ - - ? - - - F - Canada - - 0 - - 1 Michael Woods
+/. 4 c.907G>A pathogenic r.(?) p.(Asp303Asn) Unknown g.101594229G>A - - - GALNT12_000001 polyphen:probably damaging; SIFT: Not tolerated - - - Germline - - - 0 - DNA SEQ - - ? - - - M - Canada - - 0 - - 1 Michael Woods
+/. 4 c.907G>A pathogenic r.(?) p.(Asp303Asn) Unknown g.101594229G>A - - - GALNT12_000001 polyphen:probably damaging; SIFT: Not tolerated - - - Germline - - - 0 - DNA SEQ - - ? - - - M - Canada - - 0 - - 1 Michael Woods
+/. 4 c.907G>A pathogenic r.(?) p.(Asp303Asn) Unknown g.101594229G>A - - - GALNT12_000001 polyphen:probably damaging; SIFT: Not tolerated - - - Germline - - - 0 - DNA SEQ - - cancer, rectal - - DNA was not available from two CRC in family affected sisters of the proband, although a son of one of them had CRC in family at age 57 years but did not carry the variant. F - Canada - - 0 - - 1 Michael Woods
+/. 4 c.907G>A pathogenic r.(?) p.(Asp303Asn) Unknown g.101594229G>A - - - GALNT12_000001 polyphen:probably damaging; SIFT: Not tolerated - - - Germline - - - 0 - DNA SEQ - - ? - - DNA was not available from two CRC in family affected sisters of the proband, although a son of one of them had CRC in family at age 57 years but did not carry the variant. M - Canada - - 0 - - 1 Michael Woods
-?/. - c.907G>A likely benign r.(?) p.(Asp303Asn) Unknown g.101594229G>A - - - GALNT12_000001 - - - - Germline - - - 0 - DNA SEQ - - cancer, colon - - Population-based incident CRC in family screening study - - Canada Newfoundland & Labrador - 0 - - 479 Daniel Evans
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