Transcript #00008331

Transcript name UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)
Gene name GALNT12 (UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12))
Chromosome 9
Transcript - NCBI ID NM_024642.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_078918.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

53 entries on 1 page. Showing entries 1 - 53.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.18G>T likely benign r.(?) p.(=)
?/. 1 c.237C>T VUS r.(?) p.(=)
+?/. - c.303C>G likely pathogenic r.(?) p.(His101Gln)
?/. 1 c.356A>T VUS r.(?) p.(Glu119Val)
?/. 2 c.399T>C VUS r.(?) p.(=)
+/. - c.425T>C benign r.(?) p.(Ile142Thr)
-?/. - c.715G>C likely benign r.(?) p.(Glu239Gln)
?/. - c.732-8G>T VUS r.(=) p.(=)
?/. 4 c.781G>A VUS r.(?) p.(Asp261Asn)
?/. 4 c.781G>A VUS r.(?) p.(Asp261Asn)
?/. 4 c.781G>A VUS r.(?) p.(Asp261Asn)
?/. - c.781G>A VUS r.(?) p.(Asp261Asn)
?/. - c.781G>A VUS r.(?) p.(Asp261Asn)
?/. - c.781G>A VUS r.(?) p.(Asp261Asn)
-/. - c.781G>A benign r.(?) p.(Asp261Asn)
-?/. - c.857C>T likely benign r.(?) p.(Thr286Met)
+?/. - c.868G>T likely pathogenic r.(?) p.(Val290Phe)
?/. - c.868G>T VUS r.(?) p.(Val290Phe)
+?/. - c.889C>T likely pathogenic r.(?) p.(Arg297Trp)
+/. 4 c.907G>A pathogenic r.(?) p.(Asp303Asn)
+/. 4 c.907G>A pathogenic r.(?) p.(Asp303Asn)
+/. 4 c.907G>A pathogenic r.(?) p.(Asp303Asn)
+/. 4 c.907G>A pathogenic r.(?) p.(Asp303Asn)
+/. 4 c.907G>A pathogenic r.(?) p.(Asp303Asn)
+/. 4 c.907G>A pathogenic r.(?) p.(Asp303Asn)
+/. 4 c.907G>A pathogenic r.(?) p.(Asp303Asn)
+/. 4 c.907G>A pathogenic r.(?) p.(Asp303Asn)
+/. 4 c.907G>A pathogenic r.(?) p.(Asp303Asn)
+/. 4 c.907G>A pathogenic r.(?) p.(Asp303Asn)
-?/. - c.907G>A likely benign r.(?) p.(Asp303Asn)
?/. - c.907G>A VUS r.(?) p.(Asp303Asn)
?/. - c.907G>A VUS r.(?) p.(Asp303Asn)
-?/. 5i c.1036-4G>A likely benign r.(?) p.(=)
?/. - c.1066C>T VUS r.(?) p.(His356Tyr)
+/. 6 c.1187A>G pathogenic r.(?) p.(Tyr396Cys)
?/. - c.1201C>T VUS r.(?) p.(Arg401Cys)
?/. - c.1301C>T VUS r.(?) p.(Pro434Leu)
-?/. - c.1392C>G likely benign r.(?) p.(=)
?/. 8 c.1392C>T VUS r.(?) p.(=)
?/. - c.1489C>G VUS r.(?) p.(Arg497Gly)
?/. - c.1493A>G VUS r.(?) p.(Tyr498Cys)
?/. 9 c.1497C>T VUS r.(?) p.(=)
?/. 9 c.1497C>T VUS r.(?) p.(=)
-?/. - c.1497C>T likely benign r.(?) p.(=)
?/. 9i c.1605+4G>A VUS r.spl? p.?
?/. - c.1676T>G VUS r.(?) p.(Phe559Cys)
?/. 10 c.1707G>C VUS r.(?) p.(=)
?/. - c.1724T>C VUS r.(?) p.(Phe575Ser)
?/. 10 c.1734G>A VUS r.(?) p.(=)
?/. 10 c.*171A>G VUS r.(?) p.(=)
?/. 10 c.*421G>A VUS r.(?) p.(=)
?/. 10i c.*499T>A VUS r.(?) p.(=)
?/. 10i c.*547dup VUS r.(?) p.(=)
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