Individual #00293586

ID_report -
Reference PubMed: Narang 2020, Journal: Narang 2020
Remarks analysis 2794 individuals (India)
Gender -
Consanguinity -
Country India
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 11
Diseases ?
Owner name Mohammed Faruq


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000294754 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq



Variants

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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 Parent #1 -?/. - likely benign g.178363496C>A g.177442342C>A - - AGA_000012 11 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs74626221 Germline - 11/2794 individuals - 0 - Mohammed Faruq AGA - - - - - - NM_000027.3:c.34G>T - r.(?) p.(Val12Leu) - - - - - - - - - - - - - - - - - - - -
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