Full data view for gene LCT

Information The variants shown are described using the NM_002299.2 transcript reference sequence.

15 entries on 1 page. Showing entries 1 - 15.
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Effect     

Exon     

AscendingDNA change (cDNA)     

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RNA change     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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Reference     

dbSNP ID     

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Disease     

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-?/. _1 c.-22015G>A - r.(=) p.(=) Parent #1 g.136616754C>T - -22018G/A - MCM6_000002 - PubMed: Enattah 2002, OMIM:var0002 rs182549 Germline yes 32/45 controls - 0 - DNA SEQ - - lactose intol. - PubMed: Enattah 2002 9 families, 90 individuals, 32 of 45 non-affecteds - - Finland - - 0 - - 32 Johan den Dunnen
-?/. _1 c.-22015G>A - r.(=) p.(=) Both (homozygous) g.136616754C>T - -22018G/A - MCM6_000002 - PubMed: Enattah 2002, OMIM:var0002 rs182549 Germline yes 13/45 controls - 0 - DNA SEQ - - lactose intol. - PubMed: Enattah 2002 9 families, 90 individuals, 13 of 45 non-affecteds - - Finland - - 0 - - 13 Johan den Dunnen
+?/. _1 c.-13907C>T - r.(=) p.(=) Parent #1 g.136608646G>A - -13910C/T - MCM6_000001 predicted to disrupt transcription factor AP-2 binding site, possible long-range cis-transcriptional effect on developmental stage–specific regulation LCT PubMed: Enattah 2002, OMIM:var0001 rs4988235 Germline yes 32/45 controls - 0 - DNA SEQ - - lactose intol. - PubMed: Enattah 2002 9 families, 90 individuals, 32 of 45 non-affecteds - - Finland - - 0 - - 32 Johan den Dunnen
+?/. _1 c.-13907C>T - r.(=) p.(=) Both (homozygous) g.136608646G>A - -13910C/T - MCM6_000001 predicted to disrupt transcription factor AP-2 binding site, possible long-range cis-transcriptional effect on developmental stage–specific regulation LCT PubMed: Enattah 2002, OMIM:var0001 rs4988235 Germline yes 13/45 controls - 0 - DNA SEQ - - lactose intol. - PubMed: Enattah 2002 9 families, 90 individuals, 13 of 45 non-affecteds - - Finland - - 0 - - 13 Johan den Dunnen
+/+ 2 c.653_654del - r.(653_654del) p.(Ser218Cysfs*6) Unknown g.136590747_136590748del - c.653_654delCT:S218fsX224 - LCT_000001 1 Finnish family (com-het) with lactase deficiency, congenital PubMed: Kuokkanen et al. 2006 - SUMMARY record yes 0/556 FIN CON - - - - - - - - - - - - - - - - - - - - -
+?/+? 4 c.804G>C - r.(804g>c) p.(Gln268His) Unknown g.136587163C>G - c.804G>C: Q268H - LCT_000002 1 Finnish family (com-het) with lactase deficiency, congenital PubMed: Kuokkanen et al. 2006 rs121908937 SUMMARY record yes 0/556 FIN CON - - - - - - - - - - - - - - - - - - - - -
+/+ 6 c.1692_1696delAGTGG - r.(1692_1696delagugg) p.(Val565Leufs*3) Unknown g.136574922_136574926delCCACT - c.1692-1696delAGTGG: V565fsX567 - LCT_000003 1 Finnish patient (com-het) with lactase deficiency, congenital PubMed: Torniainen et al. 2009 - SUMMARY record yes 0/98 FIN CON - - - - - - - - - - - - - - - - - - - - -
+?/+? 8 c.2062T>C - r.(2062u>c) p.(Ser688Pro) Maternal (confirmed) g.136570172A>G - c.2062T>C (S688P) - LCT_000004 1 Italian family (com-het) with lactase deficiency, congenital PubMed: Torniainen et al. 2009 rs76854071 SUMMARY record yes 0/101 ITA CON - - - - - - - - - - - - - - - - - - - - -
+?/+? 9 c.4087G>A - r.(4087g>a) p.(Gly1363Ser) Unknown g.136564784C>T - c.4087G>A: G1363S - LCT_000005 1 Finnish family (com-het) with lactase deficiency, congenital PubMed: Kuokkanen et al. 2006 - SUMMARY record yes 0/556 FIN CON - - - - - - - - - - - - - - - - - - - - -
+/+ 9 c.4170T>A - r.(4170u>a) p.(Tyr1390*) Unknown g.136564701A>T - c.4170T>A: Y1390X - LCT_000006 Finnish major mutation (FINMajor) for lactase deficiency, congenital: 26 Finnish families (most hom) with the disease PubMed: Kuokkanen et al. 2006, PubMed: Torniainen et al. 2009 rs121908936 SUMMARY record yes 4/140 NIL CON - - - - - - - - - - - - - - - - - - - - -
+?/+? 10 c.4419C>G - r.(4419c>g) p.(Tyr1473*) Maternal (confirmed) g.136562382G>C - c.4419C>G (p.Y1473X) - LCT_000007 1 Japanese family (com-het) with probable lactase deficiency, congenital PubMed: Uchida et al. 2012 - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 12 c.4760G>A - r.(4760g>a) p.(Arg1587His) Paternal (confirmed) g.136558283C>T - c.4760G>A (R1587H) - LCT_000008 1 Finnish patient (com-het) with lactase deficiency, congenital PubMed: Torniainen et al. 2009 rs146614143 SUMMARY record yes 0/98 FIN CON - - - - - - - - - - - - - - - - - - - - -
+/+ 12 c.4834G>T - r.(4834g>u) p.(Glu1612*) Paternal (confirmed) g.136558209C>A - c.4834G>T (E1612X) - LCT_000009 1 Italian family (com-het) with lactase deficiency, congenital PubMed: Torniainen et al. 2009 - SUMMARY record yes 0/101 ITA CON - - - - - - - - - - - - - - - - - - - - -
+/+ 14 c.4998_5001del - r.(4998_5001del) p.(Ser1666Argfs*56) Unknown g.136552321_136552324del - c.4998_5001delTGAG: S1666fsX1722 - LCT_000010 2 Finnish families (com-het) with lactase deficiency, congenital PubMed: Kuokkanen et al. 2006 - SUMMARY record yes 0/556 FIN CON - - - - - - - - - - - - - - - - - - - - -
+?/+? 16 c.5387delA - r.(5387dela) p.(Asp1796Alafs*18) Paternal (confirmed) g.136547317delT - c.5387delA (p.D1796fs) - LCT_000011 1 Japanese family (com-het) with probable lactase deficiency, congenital PubMed: Uchida et al. 2012 - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
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