Unique variants in gene LCT

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

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

Reported     

Exon     

AscendingDNA change (cDNA)     

Class.     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

dbSNP ID     

Germline/Somatic/De novo     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. 2 _1 c.-22015G>A - r.(=) p.(=) g.136616754C>T - -22018G/A - MCM6_000002 - PubMed: Enattah 2002, OMIM:var0002 rs182549 Germline yes 32/45 controls, 13/45 controls - - - Johan den Dunnen
+?/. 2 _1 c.-13907C>T - r.(=) p.(=) g.136608646G>A - -13910C/T - MCM6_000001 1 more item PubMed: Enattah 2002, OMIM:var0001 rs4988235 Germline yes 32/45 controls, 13/45 controls - - - Johan den Dunnen
+/+ 1 2 c.653_654del - r.(653_654del) p.(Ser218Cysfs*6) 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 - - - Anne Polvi
+?/+? 1 4 c.804G>C - r.(804g>c) p.(Gln268His) 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 - - - Anne Polvi
+/+ 1 6 c.1692_1696delAGTGG - r.(1692_1696delagugg) p.(Val565Leufs*3) 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 - - - Anne Polvi
+?/+? 1 8 c.2062T>C - r.(2062u>c) p.(Ser688Pro) 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 - - - Anne Polvi
+?/+? 1 9 c.4087G>A - r.(4087g>a) p.(Gly1363Ser) 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 - - - Anne Polvi
+/+ 1 9 c.4170T>A - r.(4170u>a) p.(Tyr1390*) g.136564701A>T - c.4170T>A: Y1390X - LCT_000006 1 more item PubMed: Kuokkanen et al. 2006, PubMed: Torniainen et al. 2009 rs121908936 SUMMARY record yes 4/140 NIL CON - - - Anne Polvi
+?/+? 1 10 c.4419C>G - r.(4419c>g) p.(Tyr1473*) 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 - - - - Anne Polvi
+?/+? 1 12 c.4760G>A - r.(4760g>a) p.(Arg1587His) 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 - - - Anne Polvi
+/+ 1 12 c.4834G>T - r.(4834g>u) p.(Glu1612*) 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 - - - Anne Polvi
+/+ 1 14 c.4998_5001del - r.(4998_5001del) p.(Ser1666Argfs*56) 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 - - - Anne Polvi
+?/+? 1 16 c.5387delA - r.(5387dela) p.(Asp1796Alafs*18) 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 - - - - Anne Polvi
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