Transcript #00000285

Transcript name lactase
Gene name LCT (lactase)
Chromosome 2
Transcript - NCBI ID NM_002299.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_002290.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

29 entries on 1 page. Showing entries 1 - 29.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. _1 c.-22015G>A - r.(=) p.(=)
-?/. _1 c.-22015G>A - r.(=) p.(=)
+?/. _1 c.-13907C>T - r.(=) p.(=)
+?/. _1 c.-13907C>T - r.(=) p.(=)
+/+ 2 c.653_654del - r.(653_654del) p.(Ser218Cysfs*6)
-/. - c.655G>A benign r.(?) p.(Val219Ile)
+?/+? 4 c.804G>C - r.(804g>c) p.(Gln268His)
-/. - c.1419C>A benign r.(=) p.(=)
+/+ 6 c.1692_1696delAGTGG - r.(1692_1696delagugg) p.(Val565Leufs*3)
+?/+? 8 c.2062T>C - r.(2062u>c) p.(Ser688Pro)
-?/. - c.2457C>T likely benign r.(=) p.(=)
-/. - c.2763G>A benign r.(=) p.(=)
?/. - c.2899C>T VUS r.(?) p.(Arg967*)
+?/+? 9 c.4087G>A - r.(4087g>a) p.(Gly1363Ser)
+/+ 9 c.4170T>A - r.(4170u>a) p.(Tyr1390*)
-/. - c.4173+6_4173+8del benign r.(=) p.(=)
-?/. - c.4347T>C likely benign r.(=) p.(=)
?/. - c.4403C>T VUS r.(?) p.(Ala1468Val)
+?/+? 10 c.4419C>G - r.(4419c>g) p.(Tyr1473*)
?/. - c.4447G>T VUS r.(?) p.(Ala1483Ser)
?/. - c.4576C>T VUS r.(=) p.(=)
-/. - c.4606C>T benign r.(=) p.(=)
-?/. - c.4646A>G likely benign r.(?) p.(Tyr1549Cys)
+?/+? 12 c.4760G>A - r.(4760g>a) p.(Arg1587His)
+/+ 12 c.4834G>T - r.(4834g>u) p.(Glu1612*)
-/. - c.4866+20G>A benign r.(=) p.(=)
+/+ 14 c.4998_5001del - r.(4998_5001del) p.(Ser1666Argfs*56)
+?/+? 16 c.5387delA - r.(5387dela) p.(Asp1796Alafs*18)
-/. - c.5568T>C benign r.(=) p.(=)
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