Variant Annotations in MSeqDR, dbNSFP, VEP and Mutalyzer

Variant Annotations in MSeqDR, dbNSFP, VEP and Mutalyzer
Annotation starts 2022-08-09 16:20:55
VEP and Mutalyzer annotations for m.8993T>G

mtDNA: m.8993T>G converted to hgvs_g for Ensembl: MT:g.8993T>G
mtDNA: m.8993T>G converted to hgvs_g for NCBI/ClinVar: NC_012920.1:m.8993T>G
mtDNA: m.8993T>G converted to hgvs_g for mutalyzer: NC_012920.1:g.8993T>G

Mutalyzer: Variant checkSyntax Converted to HGVS: ;

MSeqDR and VEP annotation:
Assembly_name : GRCh38 Chromosome : MT Start : 8993 End : 8993
ID : MT:g.8993T>G Allele_string : T/G
Most_severe_consequence : missense_variant
HGVS_g: MT:g.8993T>G
Variant exists in our LSDB:0000001439; exists in ClinVar: RCV000010273 RCV000010274 RCV000191106 RCV000224643 RCV000414771 RCV000495419 RCV000754646 RCV001542706 RCV001376274

MSeqDR Community Data and Enhanced Annotations (Save):

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".

Annotation started: 2022-08-09 16:20:55, finished: 2022-08-09 16:20:58