MSeqDR Quick-Mitome Interpretation Report Central Portal
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Examples HGVS_g Variant: 3:g.49137039T>C, Gene: TMCO1, STAT1, Region: 2:191859900..191860000 Sample_UID: Demo0001.trio.vcf, Phenotype: Retinopathy,

MSeqDR Quick-Mitome Interpretation Report

Dataset Summary and Annotation




Variant Summary Report for 3:g.49137039T>C
Annotations in MSeqDR pipeline, Exomiser, HPO, ClinVar, VEP, and AF from multiple sources or :


    This variant/gene/region 3:g.49137039T>C is not found in Our exome data set!


All Exomes matching this variant/gene (limit to 5,000 rows)

 This variant/gene/region 3:g.49137039T>C is not found in filtered exome data!
 
CADD Annotation This variant/gene/region 3:g.49137039T>C is not found in internal exome CADD annotation, or it is not annotated if an indel. CADD is not shown when search by Our UID either.
 
ClinVar Annotation
SamplePosRefAltHGVSBest_RankMAX(t1.EXOMISER GENE_COMBINED_SCORE)AVG(t1.EXOMISER GENE_COMBINED_SCORE)MAX( t1.EXOMISER VARIANT_SCORE)MAX(t1.EXOMISER GENE_PHENO_SCORE)MAX(t1.EXOMISER GENE_VARIANT_SCORE)RANKSAlleleIDVariation_TypeVariation_NameGeneIDGeneSymbolHGNC_IDClinicalSignificanceClinSigSimpleLastEvaluateddbSNPdbVar_nsvRCVaccessionPhenotypeIDsPhenotypeListOriginOriginSimpleAssemblyChromosomeAccessionChromosomeStartStopReferenceAlleleAlternateAlleleCytogeneticReviewStatusNumberSubmittersGuidelinesTestedInGTROtherIDsSubmitterCategoriesVariantIDHGVS_gHGVS_cHGVS_pDiseasesHGDisease_hgmdNucleotideExpressionClinicalSignificance_briefPosition_Diff_Exome_vs_ClinVar
590051single nucleotide variantNM_005051.3(QARS1):c.1430A>G (p.Tyr477Cys)5859QARS1HGNC:9751Likely pathogenic1-rs1172486173-RCV00073529611 conditions11 conditionsgermlinegermlineGRCh37NC_000003.1134913703949137039nana3p21.31criteria provided, single submitter1-N-25989533:g.49137039T>CTCNC_000003.11:g.49137039T>CLikely pathogenic

  * Default showing 10 rows. Click any table header to view more data, and sort by that colum
 
HGMD Annotation  This variant/gene/region 3:g.49137039T>C is not found in HGMD, or you have no acess to HGMD data !

Done with real-time and pre-computed variant annotation based on GRCh37 at 2021-12-09 00:47:57

Additional annotation using MSeqDR tool:

This variant is real-time annotated by MSeqDR OneStopVariant Tool as below: