Individual #00050683

ID_report -
Reference PubMed: DDDS 2015, Journal: DDDS 2015
Remarks family, affected sibling(s)
Gender M
Consanguinity -
Country United Kingdom (Great Britain)
Population -
Age/Death -
VIP 0
Data_av Decipher
Treatment -
Panel size 2
Diseases ?
Owner name Johan den Dunnen


Phenotypes

unclassified / mixed (?)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Phenotype details     

Age/Onset     

Phenotype/Onset     

Protein     

Tumor/MSI     

Diagnosis/Criteria     

Owner     
0000037295 - - Unknown - - microcephaly, abnormality of the outer ear, prominent metopic ridge, narrow mouth, inferior vermis hypoplasia, delayed speech and language development - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000050628 DNA SEQ;SEQ-NG-I - - - 1 Johan den Dunnen



Variants

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Chr     

Allele     

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     

Effect     

Codon change     

IDbase Accession Number     

VariO/DNA     

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VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Protein/Legacy     

CodonNr     

Method     

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Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

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Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein/Stain     

Protein level     
16 Unknown g.27183151_31888684dup g.27171830_31877363dup - - CLN3_000010 mosaicism, copy number 3 in 0.33 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - 0 - Johan den Dunnen AHSP, ALDOA, APOBR, ARMC5, ASPHD1, ATP2A1, ATXN2L, BCKDK, BCL7C, BOLA2, BOLA2B, C16orf54, C16orf58, C16orf92, C16orf93, CCDC101, CD19, CD2BP2, CDIPT, CLN3, CLUHP3, CORO1A, COX6A2, CTF1, DCTPP1, DOC2A, EIF3C, EIF3CL, FAM57B, FBRS, FBXL19, FBXL19-AS1, FUS, GDPD3, GSG1L, GTF3C1, HIRIP3, HSD3B7, IL21R, IL21R-AS1, IL27, IL4R, INO80E, ITGAD, ITGAL, ITGAM, ITGAX, KAT8, KCTD13, KDM8, KIAA0556, KIF22, LAT, MAPK3, MAZ, MIR3680-2, MIR4517, MIR4518, MIR4519, MIR4721, MIR762, MVP, MYLPF, NFATC2IP, NPIPB11, NPIPB6, NPIPB8, NPIPB9, NSMCE1, NUPR1, ORAI3, PAGR1, PHKG2, PPP4C, PRR14, PRRT2, PRSS36, PRSS53, PRSS8, PYCARD, PYDC1, QPRT, RABEP2, RNF40, RRN3P2, SBK1, SEPHS2, SEPT1, SETD1A, SEZ6L2, SH2B1, SLC5A2, SLC7A5P1, SLX1A, SLX1A-SULT1A3, SLX1B, SLX1B-SULT1A4, SNORA30, SNX29P2, SPN, SPNS1, SRCAP, STX1B, STX4, SULT1A1, SULT1A2, SULT1A3, SULT1A4, TAOK2, TBC1D10B, TBX6, TGFB1I1, TMEM219, TRIM72, TUFM, VKORC1, XPO6, YPEL3, ZG16, ZNF267, ZNF48, ZNF629, ZNF646, ZNF668, ZNF688, ZNF689, ZNF720, ZNF747, ZNF764, ZNF768, ZNF771, ZNF785, ZNF843 ./. - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
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