Variant Annotations in MSeqDR, dbNSFP, VEP and Mutalyzer Annotation starts 2024-04-30 23:01:52 VEP and Mutalyzer annotations for m.7965T>C
mtDNA: m.7965T>C converted to hgvs_g for Ensembl: MT:g.7965T>C mtDNA: m.7965T>C converted to hgvs_g for NCBI/ClinVar: NC_012920.1:m.7965T>C mtDNA: m.7965T>C converted to hgvs_g for mutalyzer: NC_012920.1:g.7965T>C
Mutalyzer: Variant checkSyntax Converted to HGVS:
Mutalyzer 3;
MSeqDR and VEP annotation: Assembly_name : GRCh38 Chromosome : MT Start : 7965 End : 7965 ID : MT:g.7965T>C Allele_string : T/C Most_severe_consequence : missense_variant HGVS_g: MT:g.7965T>C Variant exists in our LSDB:0000005460; exists in ClinVar: RCV000509036
MSeqDR Community Data and Enhanced Annotations
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Genomic Annotations:
Enhanced Annotations:
Disease and phenotypes in MSeqDR, ClinVar and more... Population allele frequency: dbNSFP:
*Note: Other alleles at same position maybe shown as extra evidence in "Enhanced Annotations".