Variant Annotations in MSeqDR, dbNSFP, VEP and Mutalyzer
Annotation starts 2024-05-03 20:21:33
VEP and Mutalyzer annotations for 1:g.10042757T>C

1:g.10042757T>C converted to hgvs_g for NCBI/ClinVar:
1:g.10042757T>C converted to hgvs_g for mutalyzer: NC_000001.10:g.10042757T>C

Mutalyzer: Variant checkSyntax Converted to HGVS: Mutalyzer 3

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MSeqDR and VEP annotation:
Assembly_name : GRCh37  Chromosome : 1  Start : 10042757  End : 10042757  
ID : 1:g.10042757T>C  Allele_string : T/C  
Most_severe_consequence : stop_lost  
HGVS_g: 1:g.10042757T>C

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: 2024-05-03 20:21:33, finished: 2024-05-03 20:21:36