Linked Data - Expert Curation
ClinGen Evidence Repository:
Classification
Uncertain Significance
Condition
long QT syndrome 1
VCEP
Potassium Channel Arrhythmia VCEP
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000003276
RCV000057789
RCV000182128
RCV000541920
RCV000621158
RCV001102803
RCV001104722
RCV001841225
ClinVar Variation:
3128
dbSNP:
120074187
Variants in Literature:
PMID/PMCIDs
33693037
32268277
30615648
Linked Data - Sequence & Population
gnomAD v2:
11:2594193 G / A
gnomAD v3:
11:2572963 G / A
gnomAD v4:
chr11-2572963-G-A
Joint Max Group AF
0.00020679 (AMR)
Genomes Max Group AF
0.0000226 (AMR)
Exomes Max Group AF
0.0002416 (AMR)
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr11:g.2572963G>A
GRCh37
chr11:g.2594193G>A
Revel Score:
ENST00000155840 (MANE Select)
0.907
ENST00000335475
0.907