Full data view for gene MECR

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

31 entries on 1 page. Showing entries 1 - 31.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.-39G>C r.? p.? Parent #1 - pathogenic (recessive) g.29557457C>G g.29230945C>G - - MECR_000003 - PubMed: Fresard 2019 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - - ? example 1 PubMed: Fresard 2019 2-generation family, 2 affected brothers M - Canada - - - - - 2 Johan den Dunnen
-?/. - c.76T>G r.(?) p.(Cys26Gly) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.177-128G>T r.(=) p.(=) Unknown - VUS g.29543325C>A - MECR(NM_001349712.1):c.-179-1G>T - MECR_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.219C>T r.(?) p.(Val73=) Unknown - likely benign g.29543155G>A g.29216643G>A MECR(NM_001349715.1):c.324C>T (p.V108=) - MECR_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.247_250del r.(?) p.(Asn83Hisfs*4) Parent #2 - pathogenic (recessive) g.29543127_29543130del g.29216615_29216618del - - MECR_000009 - PubMed: Heimer 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES DYT FamEPatII1 PubMed: Heimer 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) Anglo-Saxon - - - - 2 Johan den Dunnen
+/. - c.247_250del r.(?) p.(Asn83Hisfs*4) Parent #2 - pathogenic (recessive) g.29543127_29543130del g.29216615_29216618del - - MECR_000009 - PubMed: Heimer 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES DYT FamEPatII3 PubMed: Heimer 2016 Pat2 M - United Kingdom (Great Britain) Anglo-Saxon - - - - 1 Johan den Dunnen
?/. - c.341C>T r.(?) p.(Ala114Val) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.341C>T r.(?) p.(Ala114Val) Unknown - VUS g.29542582G>A - MECR(NM_001349712.1):c.113C>T (p.A38V) - MECR_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.420C>T r.(?) p.(Thr140=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.596C>T r.(?) p.(Ala199Val) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.596C>T r.(?) p.(Ala199Val) Unknown - VUS g.29529700G>A - MECR(NM_001024732.3):c.368C>T (p.A123V) - MECR_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.653+4C>T r.spl? p.? Unknown - VUS g.29529639G>A g.29203127G>A MECR(NM_001349712.1):c.425+4C>T - MECR_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.670C>T r.(?) p.(Leu224=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.680G>A r.(?) p.(Arg227Lys) Unknown - likely benign g.29528531C>T g.29202019C>T MECR(NM_001024732.1):c.452G>A (p.(Arg151Lys)), MECR(NM_001024732.3):c.452G>A (p.R151K) - MECR_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.680G>A r.(?) p.(Arg227Lys) Unknown - likely benign g.29528531C>T - MECR(NM_001024732.1):c.452G>A (p.(Arg151Lys)), MECR(NM_001024732.3):c.452G>A (p.R151K) - MECR_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.695G>A r.(?) p.(Gly232Glu) Parent #1 - pathogenic (recessive) g.29528516C>T g.29202004C>T - - MECR_000005 - PubMed: Heimer 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DYT FamA PubMed: Heimer 2016 2-generation family, 1 affected M no - Jewish-Ashkenazi - - - - 1 Johan den Dunnen
+/. - c.695G>A r.(?) p.(Gly232Glu) Paternal (confirmed) - pathogenic (recessive) g.29528516C>T g.29202004C>T - - MECR_000005 - PubMed: Heimer 2016 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES DYT FamB PubMed: Heimer 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M no - Jewish-Ashkenaiz;Morocco;India - - - - 1 Johan den Dunnen
+/. - c.695G>A r.(?) p.(Gly232Glu) Parent #1 - pathogenic (recessive) g.29528516C>T g.29202004C>T - - MECR_000005 - PubMed: Heimer 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES DYT FamCPatII2 PubMed: Heimer 2016 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M no - Jewish-Ashkenazi - - - - 2 Johan den Dunnen
+/. - c.695G>A r.(?) p.(Gly232Glu) Parent #1 - pathogenic (recessive) g.29528516C>T g.29202004C>T - - MECR_000005 - PubMed: Heimer 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES DYT FamCPatII8 PubMed: Heimer 2016 Pat2 M no - Jewish-Ashkenazi - - - - 1 Johan den Dunnen
+/. - c.772C>T r.(?) p.(Arg258Trp) Parent #1 - pathogenic (recessive) g.29527086G>A g.29200574G>A - - MECR_000008 - PubMed: Heimer 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES DYT FamEPatII1 PubMed: Heimer 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) Anglo-Saxon - - - - 2 Johan den Dunnen
+/. - c.772C>T r.(?) p.(Arg258Trp) Parent #1 - pathogenic (recessive) g.29527086G>A g.29200574G>A - - MECR_000008 - PubMed: Heimer 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES DYT FamEPatII3 PubMed: Heimer 2016 Pat2 M - United Kingdom (Great Britain) Anglo-Saxon - - - - 1 Johan den Dunnen
+/. - c.772C>T r.(?) p.(Arg258Trp) Both (homozygous) ACMG pathogenic (recessive) g.29527086G>A g.29200574G>A - - MECR_000008 - PubMed: Fiorini 2023 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES OPA FamPatII1/2 PubMed: Fiorini 2023 2-generation family, 2 affected sisters, unaffected heterozygous parents F - Italy - - - - - 2 Johan den Dunnen
-/. - c.773G>T r.(?) p.(Arg258Leu) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.830+2dup r.spl p.? Parent #1 - pathogenic (recessive) g.29527026dup g.29200514dup 830+2dupT - MECR_000004 - PubMed: Fresard 2019 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - - ? example 1 PubMed: Fresard 2019 2-generation family, 2 affected brothers M - Canada - - - - - 2 Johan den Dunnen
+/. - c.830+2dup r.[830_831ins[guu;830+3_831-1],757_830del] p.[Arg278fs,Asp253fs] Maternal (confirmed) - pathogenic (recessive) g.29527026dup g.29200514dup 830+2InsT - MECR_000004 - PubMed: Heimer 2016 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES DYT FamB PubMed: Heimer 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M no - Jewish-Ashkenaiz;Morocco;India - - - - 1 Johan den Dunnen
+/. - c.830+2dup r.spl p.? Parent #2 - pathogenic (recessive) g.29527026dup g.29200514dup 830+2InsT - MECR_000004 - PubMed: Heimer 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES DYT FamCPatII2 PubMed: Heimer 2016 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M no - Jewish-Ashkenazi - - - - 2 Johan den Dunnen
+/. - c.830+2dup r.spl p.? Parent #2 - pathogenic (recessive) g.29527026dup g.29200514dup 830+2InsT - MECR_000004 - PubMed: Heimer 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES DYT FamCPatII8 PubMed: Heimer 2016 Pat2 M no - Jewish-Ashkenazi - - - - 1 Johan den Dunnen
+/. - c.854A>G r.(?) p.(Tyr285Cys) Both (homozygous) - pathogenic (recessive) g.29522747T>C g.29196235T>C - - MECR_000007 - PubMed: Heimer 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DYT FamD PubMed: Heimer 2016 2-generation family, 1 affected F no Tunisia - - - - - 1 Johan den Dunnen
+/. - c.855T>G r.(?) p.(Tyr285*) Parent #2 - pathogenic (recessive) g.29522746A>C g.29196234A>C - - MECR_000006 - PubMed: Heimer 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DYT FamA PubMed: Heimer 2016 2-generation family, 1 affected M no - Jewish-Ashkenazi - - - - 1 Johan den Dunnen
?/. - c.1010G>A r.(?) p.(Arg337Gln) Unknown - VUS g.29520646C>T - MECR(NM_001024732.1):c.782G>A (p.(Arg261Gln)) - MECR_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1114A>G r.(?) p.(Thr372Ala) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
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