Screening #0000019394

Individual ID 00019409
Template DNA
Technique SEQ;SEQ-NG-I
Tissue -
Remarks -
Variants found? 3
Owner name Elisabet Ars Criach


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
CUBN cubilin (intrinsic factor-cobalamin receptor) 10 p12 1 113 109 2018-03-30 MGA-1
NPHS1 nephrosis 1, congenital, Finnish type (nephrin) 19 q12-q13.1 1 317 192 2019-07-05 NPHS, NPHS-1



Variants found

3 entries on 1 page. Showing entries 1 - 3.
Legend  

Chr     

Allele     

Effect     

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     

ClassClinical     

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     

Protein level     
10 Unknown ?/. g.16967407T>C g.16925408T>C - - CUBN_000037 - PubMed: Bullich 2015, Journal: Bullich 2015 - - Unknown - - - 0 - Elisabet Ars Criach CUBN - - - - - 43 NM_001081.3:c.6479A>G - - r.(?) p.(Asp2160Gly) - - - - - - - - - - - - - - - - - - -
19 Paternal (confirmed) +/. g.36322242C>A g.35831340C>A - - NPHS1_000143 - PubMed: Santín et al. 2009 - - Germline - - - 0 fundacio_puigvert Elisabet Ars Criach NPHS1 - - - - - 26 NM_004646.3:c.3343G>T - - r.(?) p.(Glu1115*) - - - - - - - - - - - - - - - - - - -
19 Maternal (confirmed) +/. g.36336627G>T g.35845725G>T - - NPHS1_000070 - PubMed: Santín et al. 2009 - - Germline - - - 0 - Elisabet Ars Criach NPHS1 - - - - - 13 NM_004646.3:c.1701C>A - - r.(?) p.(Cys567*) - - - - - - - - - - - - - - - - - - -
Legend