Screening #0000033182

Individual ID 00033114
Template DNA
Technique SEQ;SEQ-NG-S
Tissue -
Remarks -
Variants found? 3
Owner name Kornelia Neveling


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
ELOVL4 ELOVL fatty acid elongase 4 6 q14 1 20 14 2015-03-01 ID, STGD-3, Erythrokeratodermia with ataxia, Ichthyosis, spastic quadriplegia, and mental retardation
RIMS1 regulating synaptic membrane exocytosis 1 6 q12-q13 1 77 70 2015-03-01 CORD-7



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     
6 Parent #1 ?/. g.72962456T>C g.72252753T>C - - RIMS1_000001 - PubMed: Neveling 2012 - - Germline no - - 0 - Kornelia Neveling RIMS1 - - - - - 15i NM_014989.5:c.2699-8T>C - - r.(spl?) p.(?) - - - - - - - - - - - - - - - - - - -
6 Parent #1 ?/. g.80626470A>G g.79916753A>G - - ELOVL4_000001 not segregating with disease in other family PubMed: Neveling 2012 - - Germline no - - 0 - Kornelia Neveling ELOVL4 - - - - - 6 NM_022726.3:c.800T>C - - r.(?) p.(Ile267Thr) - - - - - - - - - - - - - - - - - - -
6 Parent #1 ?/. g.80626470A>G g.79916753A>G - - ELOVL4_000001 not segregating with disease in other family PubMed: Neveling 2012 - - Germline no - - 0 - Kornelia Neveling ELOVL4 - - - - - 6 NM_022726.3:c.800T>C - - r.(?) p.(Ile267Thr) - - - - - - - - - - - - - - - - - - -
Legend