Individual #00016944

ID_report -
Reference PubMed: Meshcheryakova 2015, Journal: Meshcheryakova 2015
Remarks 2-generation family, affected mother/child
Gender F
Consanguinity no
Country Russian Federation
Population Russian
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 2
Diseases BOFS
Owner name Andrey Marakhonov


Phenotypes

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

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Owner     
0000016181 born 39w pregnancy; 10m-areas of linear aplasia skin neck, bilateral stenosis nasolacrimal canal with dystopia lacrimal points upper lip, pseudocleft upper lip; hair growth neck, parotid branchial fistulas, cysts neck. Mother 29y-areas linear aplasia skin neck, nasolacrimal canal stenosis, coloboma optic nerve, strabismus, right-sided conductive hearing loss, premature poliosis hair; upper lip cleft operated in childhood; first pregnancy terminated 22w estation medical reasons (multiple congenital malformations (bilateral cleft lip/palate, microphthalmia during ultrasound female foetus confirmed by autopsy, chromosomal aberrations excluded on cytogenetic studies foetal blood lymphocytes) - - Isolated (sporadic) - - - - - Andrey Marakhonov



Screenings


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Owner     
0000016918 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)     

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ISCN     

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ClassClinical     

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Protein level     
6 Maternal (confirmed) +?/. g.10404856G>T g.10404623G>T NM_00104242:c.637C>A (R213S) - TFAP2A_000001 ClinVar-192350 PubMed: Meshcheryakova 2015, Journal: Meshcheryakova 2015 - - Germline yes - - 0 - Andrey Marakhonov TFAP2A - - - - - 4 NM_003220.2:c.649C>A - - r.(?) p.(Arg217Ser) - - - - - - - - - - - - - - - - - - -
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