Unique variants in gene MECR

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

17 entries on 1 page. Showing entries 1 - 17.
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Effect     

Reported     

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     
+/. 1 - c.-39G>C r.? p.? - pathogenic (recessive) g.29557457C>G g.29230945C>G - - MECR_000003 - PubMed: Fresard 2019 - - Germline yes - - - - Johan den Dunnen
-?/. 1 - c.76T>G r.(?) p.(Cys26Gly) - likely benign g.29557343A>C g.29230831A>C MECR(NM_001024732.2):c.-280T>G (p.(=)) - MECR_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.219C>T r.(?) p.(Val73=) - likely benign g.29543155G>A g.29216643G>A MECR(NM_016011.4):c.219C>T (p.V73=) - MECR_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 - c.247_250del r.(?) p.(Asn83Hisfs*4) - pathogenic (recessive) g.29543127_29543130del g.29216615_29216618del - - MECR_000009 - PubMed: Heimer 2016 - - Germline yes - - - - Johan den Dunnen
?/. 1 - c.341C>T r.(?) p.(Ala114Val) - VUS g.29542582G>A g.29216070G>A MECR(NM_001349712.1):c.113C>T (p.A38V) - MECR_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.420C>T r.(?) p.(Thr140=) - likely benign g.29533404G>A g.29206892G>A MECR(NM_001349712.1):c.192C>T (p.T64=) - MECR_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.596C>T r.(?) p.(Ala199Val) - VUS g.29529700G>A g.29203188G>A MECR(NM_001024732.3):c.368C>T (p.A123V) - MECR_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.653+4C>T r.spl? p.? - VUS g.29529639G>A g.29203127G>A MECR(NM_001349712.1):c.425+4C>T - MECR_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.670C>T r.(?) p.(Leu224=) - likely benign g.29528541G>A g.29202029G>A MECR(NM_001349712.1):c.442C>T (p.L148=) - MECR_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.680G>A r.(?) p.(Arg227Lys) - likely benign g.29528531C>T g.29202019C>T MECR(NM_001024732.3):c.452G>A (p.R151K) - MECR_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 4 - c.695G>A r.(?) p.(Gly232Glu) - pathogenic (recessive) g.29528516C>T g.29202004C>T - - MECR_000005 - PubMed: Heimer 2016 - - Germline yes - - - - Johan den Dunnen
+/. 2 - c.772C>T r.(?) p.(Arg258Trp) - pathogenic (recessive) g.29527086G>A g.29200574G>A - - MECR_000008 - PubMed: Heimer 2016 - - Germline yes - - - - Johan den Dunnen
-/. 1 - c.773G>T r.(?) p.(Arg258Leu) - benign g.29527085C>A g.29200573C>A MECR(NM_001024732.3):c.545G>T (p.R182L) - MECR_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 4 - c.830+2dup r.spl, r.[830_831ins[guu;830+3_831-1],757_830del] p.?, p.[Arg278fs,Asp253fs] - pathogenic (recessive) g.29527026dup g.29200514dup 830+2dupT, 830+2InsT - MECR_000004 - PubMed: Fresard 2019, PubMed: Heimer 2016 - - Germline yes - - - - Johan den Dunnen
+/. 1 - c.854A>G r.(?) p.(Tyr285Cys) - pathogenic (recessive) g.29522747T>C g.29196235T>C - - MECR_000007 - PubMed: Heimer 2016 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.855T>G r.(?) p.(Tyr285*) - pathogenic (recessive) g.29522746A>C g.29196234A>C - - MECR_000006 - PubMed: Heimer 2016 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.1114A>G r.(?) p.(Thr372Ala) - likely benign g.29520542T>C g.29194030T>C MECR(NM_001024732.3):c.886A>G (p.T296A) - MECR_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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