Unique variants in gene MECR

Information The variants shown are described using the NM_016011.2 transcript reference sequence.

15 entries on 1 page. Showing entries 1 - 15.
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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     
+/. 1 - c.-39G>C pathogenic (recessive) r.? p.? g.29557457C>G - - - MECR_000003 - PubMed: Fresard 2019 - - Germline yes - - - - Johan den Dunnen
-?/. 1 - c.76T>G likely benign r.(?) p.(Cys26Gly) g.29557343A>C - MECR(NM_001024732.2):c.-280T>G (p.(=), p.(Cys26Gly)) - MECR_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.219C>T likely benign r.(?) p.(=) g.29543155G>A - MECR(NM_016011.3):c.219C>T (p.V73=) - MECR_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 2 - c.247_250del pathogenic (recessive) r.(?) p.(Asn83Hisfs*4) g.29543124_29543127del - - - MECR_000009 - PubMed: Heimer 2016 - - Germline yes - - - - Johan den Dunnen
-?/. 1 - c.275-7C>T likely benign r.(=) p.(=) g.29542655G>A - MECR(NM_001024732.2):c.47-7C>T (p.(=)) - MECR_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.596C>T VUS r.(?) p.(Ala199Val) g.29529700G>A - MECR(NM_001024732.2):c.368C>T (p.A123V) - MECR_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.680G>A likely benign r.(?) p.(Arg227Lys) g.29528531C>T - MECR(NM_001024732.2):c.452G>A (p.R151K) - MECR_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 4 - c.695G>A pathogenic (recessive) r.(?) p.(Gly232Glu) g.29528516C>T - - - MECR_000005 - PubMed: Heimer 2016 - - Germline yes - - - - Johan den Dunnen
+/. 2 - c.772C>T pathogenic (recessive) r.(?) p.(Arg258Trp) g.29527086G>A - - - MECR_000008 - PubMed: Heimer 2016 - - Germline yes - - - - Johan den Dunnen
-/. 1 - c.773G>T benign r.(?) p.(Arg258Leu) g.29527085C>A - MECR(NM_001024732.2):c.545G>T (p.R182L) - MECR_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.830C>T likely benign r.(?) p.(Ala277Val) g.29527028G>A - MECR(NM_001024732.2):c.602C>T (p.(Ala201Val), p.(Ala277Val)) - MECR_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 4 - c.830+2dup pathogenic (recessive) r.spl, r.[830_831ins[guu;830+3_831-1],757_830del] p.?, p.[Arg278fs,Asp253fs] g.29527026dup - 830+2dupT, 830+2InsT - MECR_000004 - PubMed: Fresard 2019, PubMed: Heimer 2016 - - Germline yes - - - - Johan den Dunnen
+/. 1 - c.854A>G pathogenic (recessive) r.(?) p.(Tyr285Cys) g.29522747T>C - - - MECR_000007 - PubMed: Heimer 2016 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.855T>G pathogenic (recessive) r.(?) p.(Tyr285*) g.29522746A>C - - - MECR_000006 - PubMed: Heimer 2016 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.1114A>G likely benign r.(?) p.(Thr372Ala) g.29520542T>C - MECR(NM_001024732.2):c.886A>G (p.T296A) - MECR_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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