Screening #0000360820

Individual ID 00359590
Template RNA
Technique SEQ-NG
Tissue -
Remarks -
Variants found? 2
Owner name Guorui Hu
Database submission license No license selected
Created by Guorui Hu
Date created 2021-03-28 15:02:22 +02:00 (CEST)
Date last edited N/A


Genes screened


AscendingSymbol     

HGNC ID     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
INSR HGNC:6091 insulin receptor 19 p13.3-p13.2 1 249 203 2025-07-08 HHF5, LEPRECHAUNISM, Insulin-resistant diabetes mellitus and acanthosis nigricans, Rabson-Mendenhall syndrome



Variants found

2 entries on 1 page. Showing entries 1 - 2.
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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     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

Function/GVS     

Predict/AGVGD     

Predict/MutationTaster     

Predict/SIFT     

Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
19 Paternal (confirmed) +?/. ACMG likely pathogenic g.7122904G>A - - - INSR_000092 - - - - Germline - - - - - Guorui Hu INSR - - - - 18 NM_000208.2:c.3355C>T - r.(?) p.(Arg1119Trp) - - - - - - - - - - - - - -
19 Maternal (confirmed) +/. ACMG VUS g.7184553_7184555del g.7184542_7184544del 749_751delCCA - INSR_000093 - - - - Germline - - - - - Guorui Hu INSR - - - - 3 NM_000208.2:c.749_751del - r.(?) p.(Thr250del) - - - - - - - - - - - - - -
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