Screening #0000152826

Individual ID 00151969
Template DNA
Technique SEQ
Tissue -
Remarks -
Variants found? 1
Owner name Aaron Bossler


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
CAPN3 calpain 3, (p94) 15 q15.1 1 2863 671 2019-10-08 LGMD-2, LGMD-2A, LGMDD-4;LGMD-1I
CAV3 caveolin 3 3 p25 1 398 117 2019-09-30 CMH-1, hCK, LGMD-1C, LQT-9, RMD, myopathy, distal, Tateyama type
DMD dystrophin X p21.2 1 18563 5759 2019-11-30 BMD, BMD/DMD, CMD-3B, DMD
DUX4 double homeobox 4 4 q35.2 1 375 29 2019-04-09 FSHD-1, FSHD-2
FKRP fukutin related protein 19 q13.3 1 933 230 2019-11-05 ID, LGMD-2, LGMD-2I;MDDGC-5, MDDGA-5, MDDGB-6
LMNA lamin A/C 1 q22 1 1332 566 2019-10-11 CMD-1A, CMT-2B1, EDMD-2, EDMD-3, FPLD-2, HGPS, LGMD-1B, MADA, cardiomyopathy, diltaed, with hypergonadotropic hypogonadism (Malouf syndrome), dermopathy, restrictive, lethal, dystrophy, muscular, congenital, LMNA-related, syndrome, heart-hand, Slovenian type
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) 17 q21 1 844 193 2019-11-30 LGMD-2, LGMD-2D
SGCB sarcoglycan, beta (43kDa dystrophin-associated glycoprotein) 4 q12 1 454 131 2019-09-30 LGMD-2, LGMD-2E
SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) 13 q12-q13 1 673 162 2019-11-05 LGMD-2, LGMD-2C



Variants found

1 entry on 1 page. Showing entry 1.
Legend  

Chr     

Allele     

Effect     

AscendingDNA 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     

Gene     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
14 Both (homozygous) +/. g.77751367T>G - - - POMT2_000104 - - - - Germline - - - 0 - Aaron Bossler POMT2 - - - - - 14 NM_013382.5:c.1502A>C - - r.(?) p.(Glu501Ala) - - - - - - - - - - - - - - - - - - -
Legend