Full data view for gene ALG2

Information The variants shown are described using the NM_033087.3 transcript reference sequence.

12 entries on 1 page. Showing entries 1 - 12.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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     

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Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.-748T>G VUS r.(?) p.(=) Unknown g.101984924A>C - SEC61B(NM_006808.2):c.100A>C (p.(=)) - SEC61B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.22del pathogenic r.(?) p.(Glu8Asnfs*40) Unknown g.101984157del - ALG2(NM_033087.3):c.22delG (p.E8Nfs*40) - ALG2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.30C>G likely benign r.(?) p.(Asp10Glu) Unknown g.101984147G>C - ALG2(NM_033087.3):c.30C>G (p.(Asp10Glu)) - ALG2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.137G>T likely benign r.(?) p.(Ser46Ile) Unknown g.101984040C>A - ALG2(NM_033087.3):c.137G>T (p.(Ser46Ile)) - ALG2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.214_224delinsAGTCCCCG ACMG: 5 r.(?) p.(Gly72_Leu75delinsSerProArg) Both (homozygous) g.101983953_101983963delinsCGGGGACT g.99221671_99221681delinsCGGGGACT - - ALG2_000009 ACMG PVS1, PP1-S, PM2, PM3, PM4, PP1, PP3, PP4 PubMed: Monies 2016 - - Germline - - - 0 - DNA SEQ, SEQ-NG - 759-gene panel neurological disorders LGMD Fam? / 11R-00685 PubMed: Monies 2016 759-gene panel analysis 50 patients suspected of LGMD - - Saudi Arabia - - 0 - - 1 Johan den Dunnen
+/. - c.226_236del pathogenic r.(?) p.(Pro76Glyfs*49) Unknown g.101983941_101983951del - ALG2(NM_033087.3):c.226_236delCCGCGAGGCCT (p.P76Gfs*49) - ALG2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.260_262dup VUS r.(?) p.(Ala87dup) Unknown g.101983920_101983922dup - ALG2(NM_033087.3):c.256_258dupCCG (p.A87dup) - ALG2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.346C>G likely benign r.(?) p.(Gln116Glu) Unknown g.101983831G>C - ALG2(NM_033087.3):c.346C>G (p.(Gln116Glu)) - ALG2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.475A>G likely benign r.(?) p.(Ile159Val) Unknown g.101980992T>C - ALG2(NM_033087.3):c.475A>G (p.(Ile159Val)) - ALG2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.484A>G likely benign r.(?) p.(Ile162Val) Unknown g.101980983T>C - ALG2(NM_033087.3):c.484A>G (p.(Ile162Val)) - ALG2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.760T>C likely benign r.(?) p.(=) Unknown g.101980707A>G - ALG2(NM_033087.3):c.760T>C (p.L254=) - ALG2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.870G>C likely benign r.(?) p.(Gln290His) Unknown g.101980597C>G - ALG2(NM_033087.3):c.870G>C (p.Q290H) - ALG2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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