Individual #00109256

ID_report Gly_61
Reference PubMed: Butterfield
Remarks mother is Gly_62
Gender F
Consanguinity -
Country (United States)
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases UCMD
Owner name Russell Butterfield
Database submission license No license selected
Created by Russell Butterfield
Date created 2013-08-01 16:57:33 +02:00 (CEST)
Date last edited 2017-07-28 19:29:09 +02:00 (CEST)


Phenotypes

dystrophy, muscular, congenital, Ullrich (UCMD) (UCMD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000086729 ambulatory with assistive devices (5y); walk-18m; wheelchair-bound >5y - - Familial, autosomal recessive - - - - - Russell Butterfield



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000109722 DNA PCR;SEQ - - COL6A3 2 Russell Butterfield



Variants

2 entries on 1 page. Showing entries 1 - 2.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

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Reference     

ClinVar ID     

dbSNP ID     

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VIP     

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Owner     

Gene     

IDbase Accession Number     

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Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

Function/GVS     

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Predict/MutationTaster     

Predict/SIFT     

Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
2 Parent #1 ?/. - VUS g.238269793G>A g.237361150G>A - - COL6A3_000155 - PubMed: Butterfield - - Germline yes - - - - Russell Butterfield COL6A3 - - - - 16 NM_004369.3:c.6181C>T - r.(?) p.(Arg2061*) - - - - - - - - - - - - - -
21 Maternal (confirmed) +/. - pathogenic g.238257027C>T - - - COL6A3_000156 Variant Error [EREF/0]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: Butterfield - - Germline yes - - - - Russell Butterfield COL6A3 - - - - 30 NM_004369.3:c.6931G>A - r.(?) p.(Gly2311Arg) - - - - - - - - - - - - - -
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