Individual #00016951

ID_report -
Reference PubMed: Meshcheryakova 2015, Journal: Meshcheryakova 2015
Remarks 2-generation family, unaffected parents not carrying the variant
Gender F
Consanguinity no
Country Russian Federation
Population Russian
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases BOFS
Owner name Andrey Marakhonov


Phenotypes

branchiooculofacial syndrome (BOFS) (BOFS)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

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Phenotype/Onset     

Protein     

Owner     
0000016183 born 38w pregnancy, birth weight 3100g; facial dysmorphism: bilateral upper lip cleft, dimples upper lip, low-set ears, parotid fistula, microgenia, branchial cysts neck, hair growth neck, ellipsoidal eye shape; first months frequent apnoeic spells and complicating respiratory failure resulting in superimposed tracheostomy tube; 8y-coloboma optic nerve, CT scan temporal bone right external auditory canal atresia - - Isolated (sporadic) - - - - - Andrey Marakhonov



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000016928 DNA SEQ blood - TFAP2A 1 Andrey Marakhonov



Variants

1 entry on 1 page. Showing entry 1.
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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     

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Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
6 Unknown +?/. g.10404864A>T g.10404631A>T NM_00104242:c.629T>A (V210D) - TFAP2A_000003 ClinVar-192351 PubMed: Meshcheryakova 2015, Journal: Meshcheryakova 2015 - - De novo - - - 0 - Andrey Marakhonov TFAP2A - - - - - 4 NM_003220.2:c.641T>A - - r.(?) p.(Val214Asp) - - - - - - - - - - - - - - - - - - -
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