Variant Annotations in MSeqDR, dbNSFP, VEP and Mutalyzer
Annotation starts 2024-05-03 12:28:19
VEP and Mutalyzer annotations for 11:g.47602542T>C

11:g.47602542T>C converted to hgvs_g for NCBI/ClinVar:
11:g.47602542T>C converted to hgvs_g for mutalyzer: NC_000011.9:g.47602542T>C

Mutalyzer: Variant checkSyntax Converted to HGVS: Mutalyzer 3

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MSeqDR and VEP annotation:
Assembly_name : GRCh37  Chromosome : 11  Start : 47602542  End : 47602542  
ID : 11:g.47602542T>C  Allele_string : T/C  
Most_severe_consequence : splice_donor_region_variant  
HGVS_g: 11:g.47602542T>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 12:28:19, finished: 2024-05-03 12:28:21