All variants in the MCM6 gene

Information The variants shown are described using the NM_005915.5 transcript reference sequence.

50 entries on 1 page. Showing entries 1 - 50.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

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     
-?/. - c.120C>A r.(?) p.(Ser40Arg) - likely benign g.136630401G>T - MCM6(NM_005915.6):c.120C>A (p.S40R) - MCM6_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.275G>A r.(?) p.(Arg92Gln) - likely benign g.136627911C>T - MCM6(NM_005915.5):c.275G>A (p.R92Q), MCM6(NM_005915.6):c.275G>A (p.R92Q) - MCM6_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.275G>A r.(?) p.(Arg92Gln) - likely benign g.136627911C>T - MCM6(NM_005915.5):c.275G>A (p.R92Q), MCM6(NM_005915.6):c.275G>A (p.R92Q) - MCM6_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.473G>A r.(?) p.(Cys158Tyr) - VUS g.136626323C>T g.135868753C>T MCM6(NM_005915.5):c.473G>A (p.C158Y) - MCM6_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.474C>G r.(?) p.(Cys158Trp) - VUS g.136626322G>C g.135868752G>C MCM6(NM_005915.5):c.474C>G (p.(Cys158Trp)) - MCM6_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.788G>A r.(?) p.(Arg263His) - VUS g.136623841C>T - MCM6(NM_005915.5):c.788G>A (p.R263H) - MCM6_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 9i c.1362+117= r.(=) p.(=) - association g.136616754= g.135859184= LCT C/T-13910 - MCM6_000000 associates with lactase non-persistence PubMed: Enattah 2002, OMIM:var0002 - rs182549 Germline yes 45/45 cases - - - Johan den Dunnen
-?/. 9i c.1362+117= r.(=) p.(=) - likely benign g.136616754= - LCT -22018G/A - MCM6_000000 - PubMed: Enattah 2002, OMIM:var0002 - rs182549 Germline yes 53/196 individuals - - - Johan den Dunnen
-?/. 9i c.1362+117= r.(=) p.(=) - likely benign g.136616754= - LCT -22018G/A - MCM6_000000 - PubMed: Enattah 2002 - rs182549 Germline yes 23/23 cases - - - Johan den Dunnen
-?/. 9i c.1362+117= r.(=) p.(=) - likely benign g.136616754= - LCT -22018G/A - MCM6_000000 - PubMed: Enattah 2002 - rs182549 Germline yes 8/9 cases - - - Johan den Dunnen
-?/. 9i c.1362+117= r.(=) p.(=) - likely benign g.136616754= - LCT -22018G/A - MCM6_000000 - PubMed: Enattah 2002 - rs182549 Germline yes 8/8 cases - - - Johan den Dunnen
-?/. - c.1362+117G>A r.(=) p.(=) - likely benign g.136616754C>T g.135859184C>T LCT -22018G/A - MCM6_000002 - PubMed: Enattah 2002, OMIM:var0002 - rs182549 Germline yes 32/45 controls - - - Johan den Dunnen
-?/. 9i c.1362+117G>A r.(=) p.(=) - likely benign g.136616754C>T g.135859184C>T LCT -22018G/A - MCM6_000002 - PubMed: Enattah 2002, OMIM:var0002 - rs182549 Germline yes 13/45 controls - - - Johan den Dunnen
-?/. 9i c.1362+117G>A r.(=) p.(=) - likely benign g.136616754C>T g.135859184C>T LCT -22018G/A - MCM6_000002 - PubMed: Enattah 2002, OMIM:var0002 - rs182549 Germline yes 6/196 individuals - - - Johan den Dunnen
-?/. 9i c.1362+117G>A r.(=) p.(=) - likely benign g.136616754C>T g.135859184C>T LCT -22018G/A - MCM6_000002 - PubMed: Enattah 2002, OMIM:var0002 - rs182549 Germline yes 63/196 individuals - - - Johan den Dunnen
-?/. 9i c.1362+117G>A r.(=) p.(=) - likely benign g.136616754C>T g.135859184C>T LCT -22018G/A - MCM6_000002 - PubMed: Enattah 2002, OMIM:var0002 - rs182549 Germline yes 74/196 individuals - - - Johan den Dunnen
-?/. 9i c.1362+117G>A r.(=) p.(=) - likely benign g.136616754C>T g.135859184C>T LCT -22018G/A - MCM6_000002 - PubMed: Enattah 2002 - rs182549 Germline yes 1/9 cases - - - Johan den Dunnen
-/. - c.1362+117G>A r.(=) p.(=) - benign g.136616754C>T g.135859184C>T - - MCM6_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1713T>C r.(?) p.(Asp571=) - likely benign g.136610399A>G - MCM6(NM_005915.5):c.1713T>C (p.D571=) - MCM6_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1855C>T r.(?) p.(Arg619*) - VUS g.136609034G>A - MCM6(NM_005915.6):c.1855C>T (p.(Arg619*)) - MCM6_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1917+225C>T r.(=) p.(=) - likely benign g.136608747G>A - - - MCM6_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1917+226G>C r.(=) p.(=) - likely benign g.136608746C>G - - - MCM6_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 13i c.1917+326= r.(=) p.(=) - association g.136608646= g.135851076= LCT G/A−22018 - MCM6_000000 associates with lactase non-persistence PubMed: Enattah 2002, OMIM:var0001 - rs4988235 Germline yes 45/45 cases - - - Johan den Dunnen
-?/. 13i c.1917+326= r.(=) p.(=) - likely benign g.136608646= - LCT -13910C/T - MCM6_000000 - PubMed: Enattah 2002, OMIM:var0001 - rs4988235 Germline yes 53/196 individuals - - - Johan den Dunnen
-?/. 13i c.1917+326= r.(=) p.(=) - likely benign g.136608646= - LCT -13910C/T - MCM6_000000 - PubMed: Enattah 2002, OMIM:var0001 - rs4988235 Germline yes 6/196 individuals - - - Johan den Dunnen
-?/. 13i c.1917+326= r.(=) p.(=) - likely benign g.136608646= - LCT -13910C/T - MCM6_000000 - PubMed: Enattah 2002 - rs4988235 Germline yes 23/23 cases - - - Johan den Dunnen
-?/. 13i c.1917+326= r.(=) p.(=) - likely benign g.136608646= - LCT -13910C/T - MCM6_000000 - PubMed: Enattah 2002 - rs4988235 Germline yes 8/9 cases - - - Johan den Dunnen
-?/. 13i c.1917+326= r.(=) p.(=) - likely benign g.136608646= - LCT -13910C/T - MCM6_000000 - PubMed: Enattah 2002 - rs4988235 Germline yes 1/9 cases - - - Johan den Dunnen
-?/. 13i c.1917+326= r.(=) p.(=) - likely benign g.136608646= - LCT -13910C/T - MCM6_000000 - PubMed: Enattah 2002 - rs4988235 Germline yes 8/8 cases - - - Johan den Dunnen
+?/. - c.1917+326C>T r.(=) p.(=) - likely pathogenic 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 - - - Johan den Dunnen
+?/. 13i c.1917+326C>T r.(=) p.(=) - likely pathogenic g.136608646G>A g.135851076G>A LCT -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 - - - Johan den Dunnen
-?/. 13i c.1917+326C>T r.(=) p.(=) - likely benign g.136608646G>A g.135851076G>A LCT -13910C/T - MCM6_000001 - PubMed: Enattah 2002, OMIM:var0001 - rs4988235 Germline yes 63/196 individuals - - - Johan den Dunnen
-?/. 13i c.1917+326C>T r.(=) p.(=) - likely benign g.136608646G>A g.135851076G>A LCT -13910C/T - MCM6_000001 - PubMed: Enattah 2002, OMIM:var0001 - rs4988235 Germline yes 74/196 individuals - - - Johan den Dunnen
-?/. 13i c.1917+326C>T r.(=) p.(=) - likely benign g.136608646G>A g.135851076G>A LCT -13910C/T - MCM6_000001 - PubMed: Enattah 2002 - rs4988235 Germline yes 287/571 individuals - - - Johan den Dunnen
-?/. 13i c.1917+326C>T r.(=) p.(=) - likely benign g.136608646G>A g.135851076G>A LCT -13910C/T - MCM6_000001 - PubMed: Enattah 2002 - rs4988235 Germline yes 176/571 individuals - - - Johan den Dunnen
-?/. 13i c.1917+326C>T r.(=) p.(=) - likely benign g.136608646G>A g.135851076G>A LCT -13910C/T - MCM6_000001 - PubMed: Enattah 2002 - rs4988235 Germline yes 159/367 individuals - - - Johan den Dunnen
-?/. 13i c.1917+326C>T r.(=) p.(=) - likely benign g.136608646G>A g.135851076G>A LCT -13910C/T - MCM6_000001 - PubMed: Enattah 2002 - rs4988235 Germline yes 146/367 individuals - - - Johan den Dunnen
-?/. 13i c.1917+326C>T r.(=) p.(=) - likely benign g.136608646G>A g.135851076G>A LCT -13910C/T - MCM6_000001 - PubMed: Enattah 2002 - rs4988235 Germline yes 33/92 individuals - - - Johan den Dunnen
-?/. 13i c.1917+326C>T r.(=) p.(=) - likely benign g.136608646G>A g.135851076G>A LCT -13910C/T - MCM6_000001 - PubMed: Enattah 2002 - rs4988235 Germline yes 52/92 individuals - - - Johan den Dunnen
-?/. 13i c.1917+326C>T r.(=) p.(=) - likely benign g.136608646G>A g.135851076G>A LCT -13910C/T - MCM6_000001 - PubMed: Enattah 2002 - rs4988235 Germline yes 9/17 individuals - - - Johan den Dunnen
-?/. 13i c.1917+326C>T r.(=) p.(=) - likely benign g.136608646G>A g.135851076G>A LCT -13910C/T - MCM6_000001 - PubMed: Enattah 2002 - rs4988235 Germline yes 1/17 individuals - - - Johan den Dunnen
-?/. 13i c.1917+326C>T r.(=) p.(=) - likely benign g.136608646G>A g.135851076G>A LCT -13910C/T - MCM6_000001 - PubMed: Enattah 2002 - rs4988235 Germline yes 15/96 individuals - - - Johan den Dunnen
-?/. 13i c.1917+326C>T r.(=) p.(=) - likely benign g.136608646G>A g.135851076G>A LCT -13910C/T - MCM6_000001 - PubMed: Enattah 2002 - rs4988235 Germline yes 5/96 individuals - - - Johan den Dunnen
-/. - c.1917+326C>T r.(=) p.(=) - benign g.136608646G>A g.135851076G>A - - MCM6_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.1917+506G>T r.(=) p.(=) - benign g.136608466C>A g.135850896C>A - - MCM6_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.2268C>T r.(?) p.(Ile756=) - likely benign g.136602196G>A - MCM6(NM_005915.5):c.2268C>T (p.I756=) - MCM6_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2428T>C r.(?) p.(Tyr810His) - likely benign g.136598443A>G - MCM6(NM_005915.5):c.2428T>C (p.Y810H) - LCT_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.*2699C>T r.(=) p.(=) - benign g.136595706G>A g.135838136G>A - - LCT_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.*2782G>A r.(=) p.(=) - likely benign g.136595623C>T g.135838053C>T - - LCT_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.*4247C>T r.(=) p.(=) - benign g.136594158G>A g.135836588G>A LCT(NM_002299.4):c.582C>T (p.T194=) - LCT_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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