Unique variants in gene LCT

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

27 entries on 1 page. Showing entries 1 - 27.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. 2 _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, 13/45 controls - - - Johan den Dunnen
+?/. 2 _1 c.-13907C>T - r.(=) p.(=) g.136608646G>A g.135851076G>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 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
-/. 1 - c.655G>A benign r.(?) p.(Val219Ile) g.136590746C>T - LCT:c.655G>A (V219I) - LCT_000026 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/+? 1 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
-/. 1 - c.1419C>A benign r.(=) p.(=) g.136575199G>T - LCT:c.1419C>A (=) - LCT_000024 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/+ 1 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
+?/+? 1 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
-?/. 1 - c.2457C>T likely benign r.(=) p.(=) g.136567460G>A - LCT:c.2457C>T (H819=) - LCT_000023 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.2763G>A benign r.(=) p.(=) g.136567154C>T - LCT:c.2763G>A (A921=) - LCT_000022 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2899C>T VUS r.(?) p.(Arg967*) g.136567018G>A - LCT:NM_002299.2:c.2899C>T - LCT_000021 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/+? 1 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
+/+ 1 9 c.4170T>A - r.(4170u>a) p.(Tyr1390*) g.136564701A>T g.135807131A>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 - c.4173+6_4173+8del benign r.(=) p.(=) g.136564690_136564692del - LCT:c.4173+6_4173+8delGAG - LCT_000020 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.4347T>C likely benign r.(=) p.(=) g.136562454A>G - LCT:c.4347T>C (F1449=) - LCT_000019 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.4403C>T VUS r.(?) p.(Ala1468Val) g.136562398G>A - LCT:c.4403C>T (A1468V) - LCT_000018 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/+? 1 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 - - - - Anne Polvi
?/. 1 - c.4447G>T VUS r.(?) p.(Ala1483Ser) g.136562354C>A - LCT:c.4447G>T (A1483S) - LCT_000017 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.4576C>T VUS r.(=) p.(=) g.136561587G>A - LCT:c.4576C>T (=) - LCT_000016 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.4606C>T benign r.(=) p.(=) g.136561557G>A - LCT:c.4606C>T (=) - LCT_000015 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.4646A>G likely benign r.(?) p.(Tyr1549Cys) g.136561517T>C - LCT:c.4646A>G (Y1549C) - LCT_000014 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/+? 1 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
+/+ 1 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
-/. 1 - c.4866+20G>A benign r.(=) p.(=) g.136558157C>T - LCT:c.4866+20G>A - LCT_000013 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/+ 1 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
+?/+? 1 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 - - - - Anne Polvi
-/. 1 - c.5568T>C benign r.(=) p.(=) g.136546110A>G - LCT:c.5568T>C (=) - LCT_000012 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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