Individual #00336031

ID_report -
Reference PubMed: Seese 2021, Journal: Seese 2021
Remarks 2 generation family: affected child (compound heterozygote) and unaffected parents (one carries coding, other carries noncoding variant)
Gender F
Consanguinity -
Country Australia
Population white
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases MCOP
Owner name Sarah Seese
Database submission license No license selected
Created by Sarah Seese


Phenotypes

microphthalmia (MCOP) (MCOP)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000253927 HP:0000568; HP:0000589 - - Unknown - - - - - Sarah Seese



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000337261 DNA SEQ-NG - WES - 2 Sarah Seese



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     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

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     
13 Maternal (confirmed) ?/. - VUS g.36048667T>C g.35474530T>C - - MAB21L1_000004 - PubMed: Seese 2021, Journal: Seese 2021 - - Germline - - sseese 0 - Sarah Seese MAB21L1 - - - - - NM_005584.4:c.*529A>G - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
13 Paternal (confirmed) ?/. - VUS g.36049618C>G g.35475481C>G - - MAB21L1_000005 - PubMed: Seese 2021, Journal: Seese 2021 - - Germline - - sseese 0 - Sarah Seese MAB21L1 - - - - - NM_005584.4:c.658G>C - r.(?) p.(Gly220Arg) - - - - - - - - - - - - - - - - - - -
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