Individual #00210054

ID_report RP
Reference PubMed: Vadgama 2019, Journal: Vadgama 2019
Remarks -
Gender M
Consanguinity no
Country -
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases autism
Owner name Nirmal Vadgama


Phenotypes

autism (autism)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Age/Examination     

Diagnosis/Definite     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Phenotype details     

Protein     

Owner     
0000158628 - Isolated (sporadic) - - - - - - - Nirmal Vadgama



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000211113 DNA SEQ-NG Buccal WES - 3 Nirmal Vadgama
0000211114 DNA arrayCNV Buccal Microarray - 1 Nirmal Vadgama



Variants

4 entries on 1 page. Showing entries 1 - 4.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

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     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
4 Unknown +?/. - likely pathogenic g.(?_15776181)_(15840839_?)dup - - - chr4_003299 - PubMed: Vadgama 2019, Journal: Vadgama 2019 - - Germline/De novo (untested) - - - - - Nirmal Vadgama - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
7 Unknown +?/. - likely pathogenic g.154461147A>G g.154669437A>G - - DPP6_000020 - PubMed: Vadgama 2019, Journal: Vadgama 2019 - - Germline - - - 0 - Nirmal Vadgama DPP6 - - - - - - NM_001936.3:c.596A>G, NM_130797.3:c.782A>G - r.(?) p.(Asn199Ser), p.(Asn261Ser) - - - - - - - - - - - - - - - - - - - -
8 Unknown +?/. - likely pathogenic g.61777986G>A g.60865427G>A - - CHD7_000260 - PubMed: Vadgama 2019, Journal: Vadgama 2019 - - Germline - - - 0 - Nirmal Vadgama CHD7 - - - - - - NM_017780.3:c.8488G>A - r.(?) p.(Ala2830Thr) - - - - - - - - - - - - - - - - - - - -
22 Unknown +?/. - likely pathogenic g.35943026G>A g.35546979G>A - - RASD2_000001 - PubMed: Vadgama 2019, Journal: Vadgama 2019 - - De novo - - - 0 - Nirmal Vadgama RASD2 - - - - - - NM_014310.3:c.170G>A - r.(?) p.(Arg57His) - - - - - - - - - - - - - - - - - - - -
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