Individual #00220160

ID_report 30564623-Pat
Reference PubMed: Nallamilli 2018
Remarks -
Gender -
Consanguinity -
Country (United States)
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases LGMD
Owner name Madhuri Hegde


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000221231 DNA SEQ;SEQ-NG - targeted gene panel - 4 Madhuri Hegde



Variants

4 entries on 1 page. Showing entries 1 - 4.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

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     

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     

Legacy protein change     

Protein level     
2 Parent #1 ?/. - VUS g.179424835G>A g.178560108G>A 78320C>T (P26107L) - TTN_003699 no second variant in TTN PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde TTN - - - - - - NM_001267550.1:c.86024C>T - r.(?) p.(Pro28675Leu) - - - - - - - - - - - - - - - - - - - -
9 Parent #1 ?/. - VUS g.? - 232G>C (E78Q) - PTCH1_000000 no second variant in POMT1 PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde POMT1 - - - - - 1 NM_007171.3:c.? - r.(?) p.? - - - - - - - - - - - - - - - - - - - -
15 Parent #1 +/. - pathogenic g.42652148C>T g.42359950C>T - - CAPN3_000263 2 Variants detected in CAPN3 PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde CAPN3 - - - - - 1 NM_000070.2:c.145C>T - r.(?) p.(Arg49Cys) - - - - - - - - - - - - - - - - - - - -
15 Parent #1 ?/. - VUS g.42652267T>G g.42360069T>G - - CAPN3_000566 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde CAPN3 - - - - - 1 NM_000070.2:c.264T>G - r.(?) p.(Phe88Leu) - - - - - - - - - - - - - - - - - - - -
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