Screening #0000016262

Individual ID 00016140
Template DNA
Technique SEQ;SEQ-NG
Tissue leukocyte
Remarks -
Variants found? 6
Owner name Terry Vrijenhoek


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
DMD dystrophin X p21.2 1 17282 5463 2019-07-16 BMD, BMD/DMD, CMD-3B, DMD
JPH2 junctophilin 2 20 q12-q13.11 1 124 84 2019-06-06 CMH-17
TNNI3 troponin I type 3 (cardiac) 19 q13.4 1 280 126 2019-04-11 CMD-1FF, CMD-2A, CMH-7, RCM-1
TTN titin 2 q31 2 6155 3884 2019-07-15 CMD-1G, CMH-9, HMERF, LGMD-2J, TMD, myopathy, early-onset, with fatal cardiomyopathy



Variants found

6 entries on 1 page. Showing entries 1 - 6.
Legend  

Chr     

Allele     

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     

Effect     

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     

Protein/Legacy     

CodonNr     

Method     

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/Stain     

Protein level     
2 Unknown g.179416372C>T g.178551645C>T NM_003319.4:c.64060G>A (Ala21354Thr) - TTN_000624 - PubMed: Vrijenhoek 2015, Journal: Vrijenhoek 2015 - - Unknown ? - - 0 - Terry Vrijenhoek TTN ?/? - - - - - 336 NM_001267550.1:c.91255G>A - - r.(?) p.(Ala30419Thr) - - - - - - - - - - - - - - - - - - - - - - -
2 Unknown g.179481618C>G g.178616891C>G NM_003319.4:c.20803G>C (Asp6935His) - TTN_000626 - PubMed: Vrijenhoek 2015, Journal: Vrijenhoek 2015 - - Unknown ? - - 0 - Terry Vrijenhoek TTN ?/? - - - - - 257 NM_001267550.1:c.47998G>C - - r.(?) p.(Asp16000His) - - - - - - - - - - - - - - - - - - - - - - -
2 Unknown g.179638729A>C g.178774002A>C NM_003319.3:c.7028T>G (Met2343Arg) - TTN_000630 - PubMed: Vrijenhoek 2015, Journal: Vrijenhoek 2015 - - Unknown ? - - 0 - Terry Vrijenhoek TTN ?/? - - - - - 31 NM_001267550.1:c.7166T>G - - r.(?) p.(Met2389Arg) - - - - - - - - - - - - - - - - - - - - - - -
19 Parent #1 g.55665450G>A g.55154082G>A - - TNNI3_000035 - Vrijenhoek, submitted - - Unknown ? - - 0 - Terry Vrijenhoek TNNI3 +/? - - - - - ? NM_000363.4:c.497C>T - - r.(?) p.(Ser166Phe) - - - - - - - - - - - - - - - - - - - - - - -
20 Parent #1 g.42788779C>T g.44160139C>T - - JPH2_000001 - Vrijenhoek, submitted - - Unknown ? - - 0 - Terry Vrijenhoek JPH2 ?/? - - - - - ? NM_020433.4:c.648G>A - - r.(?) p.(=) - - - - - - - - - - - - - - - - - - - - - - -
X Parent #1 g.32361267T>A g.32343150T>A - - DMD_000961 - Vrijenhoek, submitted - - Germline ? - - 0 - Terry Vrijenhoek DMD ?/. - - - - - 40 NM_004006.2:c.5723A>T - - r.(?) p.(Asp1908Val) - - - - - - - - - - - - - - - - - - - - - - -
Legend