Annotation starts 2024-05-13 15:35:37
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: Mutalyzer 3

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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

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".