Individual #00046772

ID_report -
Reference PubMed: Losfeld 2014, Journal: Losfeld 2014
Remarks 2-generation family, 1 affected
Gender M
Consanguinity no
Country United States
Population -
Age/Death >16y (later than 16 years)
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases CDG-1
Owner name Bobby Ng


Phenotypes

glycosylation, congenital disorder of, type I (CDG-1) (CDG-1)   Add phenotype for this disease

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Owner     
0000034296 see paper; at birth:microcephaly, dysmorphic features (excess skin around tneck and micrognathia), displayed increased fat pads, mild hypospadias, clinodactyly 4th/5th toes bilaterally, ... - - Isolated (sporadic) - - - - - Bobby Ng



Screenings


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Owner     
0000046881 DNA SEQ-NG - - SSR4 1 Bobby Ng



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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Protein level     
X Unknown +/. g.153063235delT g.153797780delT 316delT (F106Sfs*53) - SSR4_000002 cells show absence of SSR4 protein, 0.5 reduced levels of SSR1-3 PubMed: Losfeld 2014, Journal: Losfeld 2014, OMIM:var0001 - - De novo - - - 0 - Bobby Ng SSR4 - - - - - 4 NM_006280.2:c.317delT - - r.(?) p.(Phe106Serfs*54) - - - - - - - - - - - - - - - - - - -
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