Full data view for gene VMA21

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_001017980.3 transcript reference sequence.

29 entries on 1 page. Showing entries 1 - 29.
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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.-426C>T r.(?) p.(=) Unknown - likely benign g.150565355C>T - VMA21(NM_001363810.1):c.44C>T (p.(Ala15Val)) - VMA21_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3G>T r.(?) p.(Met1?) Unknown - VUS g.150565783G>T g.151397311G>T - - VMA21_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1i c.54-27A>C r.spl p.= Parent #1 - pathogenic g.150572076A>C g.151403604A>C - - VMA21_000006 affects branchpoint, mRNA 50% reduced; not in 720 control chromosomes PubMed: Ramachandran 2013 (retracted PubMed: Ramachandran 2009) - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MEAX 19379691-Fam3 PubMed: Ramachandran 2013 (retracted PubMed: Ramachandran 2009) family, 1 affected M - France - - - - - 1 Johan den Dunnen
+/. 1i c.54-27A>T r.spl p.= Parent #1 - pathogenic g.150572076A>T g.151403604A>T - - VMA21_000001 affects branchpoint, mRNA 50% reduced; not in 720 control chromosomes PubMed: Ramachandran 2013 (retracted PubMed: Ramachandran 2009) - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MEAX 19379691-Fam1 PubMed: Ramachandran 2013 (retracted PubMed: Ramachandran 2009) family, 3 affecteds M - United States - - - - - 3 Johan den Dunnen
+/. 1i c.54-27A>T r.spl p.= Parent #1 - pathogenic g.150572076A>T g.151403604A>T - - VMA21_000001 affects branchpoint, mRNA 50% reduced; not in 720 control chromosomes PubMed: Ramachandran 2013 (retracted PubMed: Ramachandran 2009) - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MEAX 19379691-Fam2 PubMed: Ramachandran 2013 (retracted PubMed: Ramachandran 2009) family, 1 affected M - Italy - - - - - 1 Johan den Dunnen
+/. 1i c.54-16_54-8del r.=|[0.45] p.=|red Maternal (inferred) - pathogenic g.150572087_150572095del g.151403615_151403623del - - VMA21_000011 mRNA reduced to 0.40-0.50, dramatically redcued VMA21 protein {PMID:Ruggieri 2015:25683699 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MEAX 25683699-Pat2 PubMed: Ruggieri 2015 2-generation family, 1 affected M - Australia European - - - - 1 Johan den Dunnen
+?/. - c.85del r.? p.(Ser29Alafs*50) Unknown - likely pathogenic g.150565396del g.151396924del NM_001363810.1:c.85del (S29Afs*50) - VMA21_000014 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - - - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - 1 Johan den Dunnen
-?/. - c.144T>G r.(?) p.(=) Unknown - likely benign g.150572193T>G - VMA21(NM_001017980.3):c.144T>G (p.T48=) - VMA21_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2i c.163+4A>G r.spl p.= Parent #1 - pathogenic g.150572216A>G g.151403744A>G - - VMA21_000002 mRNA 45% reduced; not in 720 control chromosomes PubMed: Ramachandran 2013 (retracted PubMed: Ramachandran 2009) - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MEAX 19379691-Fam4 PubMed: Ramachandran 2013 (retracted PubMed: Ramachandran 2009) family, 2 affecteds M - France - - - - - 2 Johan den Dunnen
+/. 2i c.163+4A>G r.spl p.= Parent #1 - pathogenic g.150572216A>G g.151403744A>G - - VMA21_000002 mRNA 45% reduced; not in 720 control chromosomes PubMed: Ramachandran 2013 (retracted PubMed: Ramachandran 2009) - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MEAX 19379691-Fam5 PubMed: Ramachandran 2013 (retracted PubMed: Ramachandran 2009) family, 2 affecteds M - France - - - - - 2 Johan den Dunnen
+/. 2i c.163+4A>G r.spl p.= Parent #1 - pathogenic g.150572216A>G g.151403744A>G - - VMA21_000002 mRNA 45% reduced; not in 720 control chromosomes PubMed: Ramachandran 2013 (retracted PubMed: Ramachandran 2009) - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MEAX 19379691-Fam6 PubMed: Ramachandran 2013 (retracted PubMed: Ramachandran 2009) family, 2 affecteds M - France - - - - - 2 Johan den Dunnen
+/. - c.163+4A>G r.spl? p.? Parent #1 - pathogenic g.150572216A>G g.151403744A>G - - VMA21_000002 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs797044909 Germline - 1/2788 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-?/. - c.163+16T>G r.(=) p.(=) Unknown - likely benign g.150572228T>G - VMA21(NM_001017980.3):c.163+16T>G - VMA21_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 2i c.164-54dup r.(?) p.(=) Unknown - likely benign g.150573334dup g.151404862dup 164-66_164-65insT - VMA21_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
+/. 2i c.164-7T>G r.spl p.= Parent #1 - pathogenic g.150573381T>G g.151404909T>G - - VMA21_000003 mRNA 40% reduced; not in 930 control chromosomes PubMed: Ramachandran 2013 (retracted PubMed: Ramachandran 2009) - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MEAX 19379691-Fam7 PubMed: Ramachandran 2013 (retracted PubMed: Ramachandran 2009) family, 4 affecteds M - France - - - - - 4 Johan den Dunnen
+/. 2i c.164-7T>G r.spl p.= Parent #1 - pathogenic g.150573381T>G g.151404909T>G - - VMA21_000003 mRNA 40% reduced; not in 930 control chromosomes PubMed: Ramachandran 2013 (retracted PubMed: Ramachandran 2009) - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MEAX 19379691-Fam8 PubMed: Ramachandran 2013 (retracted PubMed: Ramachandran 2009) family, 2 affecteds M - France - - - - - 2 Johan den Dunnen
+/. 2i c.164-7T>G r.spl p.= Parent #1 - pathogenic g.150573381T>G g.151404909T>G - - VMA21_000003 mRNA 40% reduced; not in 930 control chromosomes PubMed: Ramachandran 2013 (retracted PubMed: Ramachandran 2009) - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MEAX 19379691-Fam9 PubMed: Ramachandran 2013 (retracted PubMed: Ramachandran 2009) family, 5 affecteds M - France - - - - - 5 Johan den Dunnen
+/. 2i c.164-7T>G r.spl? p.(=) Maternal (confirmed) - pathogenic g.150573381T>G g.151404909T>G - - VMA21_000003 - PubMed: Kurashige 2013 - - Germline yes - - - - DNA SEQ - - MEAX 23850239-FamPatIII1 PubMed: Kurashige 2013 4-generation family, 3 affecteds (3M), unaffected carrier females M no Japan - - - - - 3 Johan den Dunnen
+/. 2i c.164-7T>G r.spl? p.(=) Maternal (inferred) - pathogenic g.150573381T>G g.151404909T>G - - VMA21_000003 - PubMed: Crockett 2014 - - Germline - - - - - DNA SEQ - - MEAX 24488655-FamPat1 PubMed: Crockett 2014 2-generation family, 2 affected brothers M - United States - - - - - 1 Johan den Dunnen
+/. 2i c.164-6T>G r.=|[0.22] p.=|[0.13] Maternal (inferred) - pathogenic g.150573382T>G g.151404910T>G - - VMA21_000009 not in 949 control chromosomes; mRNA reduced to 0.22-0.25 (0.45-0.69 in MEAX cases), V-ATPase activity reduced to 0.13 (0.16-0.22 in MEAX cases) PubMed: Munteanu 2015 - - Germline - - - - - DNA SEQ - - MYOP 16217076-FamPat PubMed: Yan 2005 5-generation family, 7 affecteds (7M) M no United States China - - - - 1 Johan den Dunnen
?/. - c.165C>T r.(?) p.(Gly55=) Unknown - VUS g.150573389C>T g.151404917C>T VMA21(NM_001017980.3):c.165C>T (p.(=)) - VMA21_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.272G>C r.272g>c p.Gly91Ala Parent #1 - pathogenic g.150573496G>C g.151405024G>C - - VMA21_000004 mRNA 30% reduced; not in 608 control chromosomes PubMed: Ramachandran 2013 (retracted PubMed: Ramachandran 2009) - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MEAX 19379691-Fam10 PubMed: Ramachandran 2013 (retracted PubMed: Ramachandran 2009) family, 5 affecteds M - Finland - - - - - 5 Johan den Dunnen
+/. 3 c.272G>C r.272g>c p.Gly91Ala Parent #1 - pathogenic g.150573496G>C g.151405024G>C - - VMA21_000004 mRNA 30% reduced; not in 608 control chromosomes PubMed: Ramachandran 2013 (retracted PubMed: Ramachandran 2009) - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MEAX 19379691-Fam11 PubMed: Ramachandran 2013 (retracted PubMed: Ramachandran 2009) family, 2 affecteds M - Finland - - - - - 2 Johan den Dunnen
+/. 3 c.294C>T r.293_306delinsggacaaaaaccugaaugagacgccucuaccca p.Lys99_Asp101delinsThrLysThr Maternal (confirmed) ACMG likely pathogenic g.150573518C>T g.151405046C>T - - VMA21_000016 - - - - Germline yes - - - - DNA SEQ-NG - - MEAX III-4 - - M - Spain - 17y - - - 1 Patricia Blanco-Arias
+/. 3 c.*6A>G r.(spl?) p.= Parent #1 - pathogenic g.150573536A>G g.151405064A>G - - VMA21_000005 mRNA 50-60% reduced; not in 608 control chromosomes PubMed: Ramachandran 2013 (retracted PubMed: Ramachandran 2009) - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MEAX 19379691-Fam12 PubMed: Ramachandran 2013 (retracted PubMed: Ramachandran 2009) family, 7 affecteds M - United States - - - - - 7 Johan den Dunnen
+/. 3 c.*6A>G r.(spl?) p.= Parent #1 - pathogenic g.150573536A>G g.151405064A>G - - VMA21_000005 mRNA 50-60% reduced; not in 608 control chromosomes PubMed: Ramachandran 2013 (retracted PubMed: Ramachandran 2009) - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MEAX 19379691-Fam13 PubMed: Ramachandran 2013 (retracted PubMed: Ramachandran 2009) family, 10 affecteds M - United States - - - - - 10 Johan den Dunnen
+/. 3 c.*6A>G r.(spl?) p.= Parent #1 - pathogenic g.150573536A>G g.151405064A>G - - VMA21_000005 mRNA 50-60% reduced; not in 608 control chromosomes PubMed: Ramachandran 2013 (retracted PubMed: Ramachandran 2009) - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MEAX 19379691-Fam14 PubMed: Ramachandran 2013 (retracted PubMed: Ramachandran 2009) family, 3 affecteds M - United States - - - - - 3 Johan den Dunnen
+/. 3 c.*13_*104del r.=|[0.45] p.=|red Maternal (confirmed) - pathogenic g.150573543_150573634del g.151405071_151405162del - - VMA21_000010 mRNA reduced to 0.40-0.50, dramatically redcued VMA21 protein PubMed: Ruggieri 2015 - - Germline - - - - - DNA, RNA RT-PCR - - MEAX 25683699-Pat1 PubMed: Ruggieri 2015 2-generation family, 1 affected, unaffected carrier mother M - Italy - - - - - 1 Johan den Dunnen
-?/. 3 c.*2836_*2837del r.(?) p.(=) Unknown - likely benign g.150576366_150576367del g.151407894_151407895del - - VMA21_000008 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
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