Individual #00060258

ID_report -
Reference PubMed: Behar 2014, Journal: Behar 2014
Remarks 3-generation family, 2 affecteds (F, M), unaffected carrier parents/sibs; family segregates GJB2 and USH2A variants
Gender F;M
Consanguinity no
Country Israel
Population Iraq, Jewish; Iraq, Jewish (Ashkenazi)
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 3
Diseases USH-2A
Owner name Zippi Brownstein


Phenotypes

Usher syndrome, type 2A (USH-2A) (USH-2A)   Add phenotype for this disease

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Owner     
0000046747 Congenital, moderate HL; retinitis pigmentosa? - - Familial, autosomal recessive - - - - - Zippi Brownstein



Screenings


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Owner     
0000060243 DNA SEQ-NG-I blood - - 3 Zippi Brownstein



Variants

3 entries on 1 page. Showing entries 1 - 3.
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Chr     

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AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

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Protein level     
1 Paternal (inferred) +/? g.216373412T>C g.216200070T>C - - USH2A_000285 not in 114 hearing controls PubMed: Behar 2014, Journal: Behar 2014 - - Germline yes - - 0 - Zippi Brownstein USH2A - - - - - 17 NM_206933.2:c.3368A>G - pathogenic r.(?) p.(Tyr1123Cys) - - - - - - - - - - - - - - - - - - -
1 Maternal (confirmed) +/. g.216595440_216595443dup g.216422098_216422101dup 239–242insGTAC (Thr80fs) - USH2A_000135 - PubMed: Behar 2014, Journal: Behar 2014 - - Germline yes - - 0 - Zippi Brownstein USH2A - - - - - 2 NM_206933.2:c.236_239dup - pathogenic r.(?) p.(Gln81Tyrfs*28) - - - - - - - - - - - - - - - - - - -
13 Maternal (confirmed) +/. g.20763321A>G g.20189182A>G - - GJB2_000008 - PubMed: Behar 2014, Journal: Behar 2014 - - Germline - - - 0 - Johan den Dunnen GJB2 - - - - - 2 NM_004004.5:c.400T>C - - r.(?) p.(Trp134Arg) - - - - - - - - - - - - - - - - - - -
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