All transcript variants in 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)     

Class.     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Germline/De novo/Somatic     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. _1 c.-22015G>A - r.(=) p.(=) g.136616754C>T g.135859184C>T -22018G/A - MCM6_000002 - PubMed: Enattah 2002, OMIM:var0002 - rs182549 Germline yes 32/45 controls - 0 - Johan den Dunnen
-?/. _1 c.-22015G>A - r.(=) p.(=) g.136616754C>T g.135859184C>T -22018G/A - MCM6_000002 - PubMed: Enattah 2002, OMIM:var0002 - rs182549 Germline yes 13/45 controls - 0 - Johan den Dunnen
+?/. _1 c.-13907C>T - r.(=) p.(=) g.136608646G>A g.135851076G>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 - Johan den Dunnen
+?/. _1 c.-13907C>T - r.(=) p.(=) g.136608646G>A g.135851076G>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 - Johan den Dunnen
+/+ 2 c.653_654del - r.(653_654del) p.(Ser218Cysfs*6) g.136590747_136590748del g.135833177_135833178del 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
+?/+? 4 c.804G>C - r.(804g>c) p.(Gln268His) g.136587163C>G g.135829593C>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
+/+ 6 c.1692_1696delAGTGG - r.(1692_1696delagugg) p.(Val565Leufs*3) g.136574922_136574926delCCACT g.135817352_135817356delCCACT 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
+?/+? 8 c.2062T>C - r.(2062u>c) p.(Ser688Pro) g.136570172A>G g.135812602A>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
+?/+? 9 c.4087G>A - r.(4087g>a) p.(Gly1363Ser) g.136564784C>T g.135807214C>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
+/+ 9 c.4170T>A - r.(4170u>a) p.(Tyr1390*) g.136564701A>T g.135807131A>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 - - - Anne Polvi
+?/+? 10 c.4419C>G - r.(4419c>g) p.(Tyr1473*) g.136562382G>C g.135804812G>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 - Anne Polvi
+?/+? 12 c.4760G>A - r.(4760g>a) p.(Arg1587His) g.136558283C>T g.135800713C>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
+/+ 12 c.4834G>T - r.(4834g>u) p.(Glu1612*) g.136558209C>A g.135800639C>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
+/+ 14 c.4998_5001del - r.(4998_5001del) p.(Ser1666Argfs*56) g.136552321_136552324del g.135794751_135794754del 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
+?/+? 16 c.5387delA - r.(5387dela) p.(Asp1796Alafs*18) g.136547317delT g.135789747delT 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 - Anne Polvi
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