Individual #00305211

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 1
Diseases ?
Owner name Mohammed Faruq


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000306340 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq



Variants

1 entry on 1 page. Showing entry 1.
Legend   How to query  

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     
9 Both (homozygous) -/. - benign g.101594103G>A g.98831821G>A - - GALNT12_000004 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41306504 Germline - 1/2795 individuals - 0 - Mohammed Faruq GALNT12 - - - - - - NM_024642.4:c.781G>A - r.(?) p.(Asp261Asn) - - - - - - - - - - - - - - - - - - - -
Legend   How to query