Interactive Workspace
Genome Intelligence & Variant Analysis Lab
Inspect chromosomal loci, analyze base-pair sequence variants, and evaluate protein domain consequences in real-time.
GENOME ENGINE // v4.2 READY
Demonstration datasets contain representative ClinVar and gnomAD exome variant benchmarks for educational and computational analysis.
Module 01 // Chromosome Locus Navigator
CHROMOSOME 18 MAP // GRCh38.p14Locus Range: 0 to 80.3 Mb
SELECTED BAND18q11.2
TARGET GENENPC1 (Niemann-Pick C1)
COORDINATE RANGE21.1 - 21.2 Mb
Module 02 // Base-Pair Sequence Inspector
DNA SEQUENCE INSPECTOR // EXON 21 FRAGMENT
REF // Wildtype Sequence (GRCh38)
ATGGCGACCCAGGTGCAGCGGATCCTGTACCGGCTGTCGGACATCATCGGCCACATCCTGG
ALT // Variant Allele (c.3182T>C)
ATGGCGACCCAGGTGCAGCGGATCCTGTACCGGCTGTCGGACATCACCGGCCACATCCTGG
Codon Change: ATC (Ile) → ACC (Thr)Amino Acid Position: 1061
Module 03 // Rare Variant Repository & Classification
GRCh38 Locus: chr18:21,100,000-21,150,000Classification:
| Variant ID | Gene / cDNA | Protein Change | Classification | gnomAD AF | Evidence |
|---|---|---|---|---|---|
| VAR-NPC1-001 | NPC1c.3182T>C | p.Ile1061Thr | Pathogenic | 4.20e-4 | EVIDENCE // Established |
| VAR-NPC1-002 | NPC1c.2974G>A | p.Gly992Arg | Pathogenic | 8.00e-5 | EVIDENCE // Established |
| VAR-NPC1-003 | NPC1c.1553C>T | p.Ala518Val | Likely Pathogenic | 1.20e-5 | EVIDENCE // Supported |
| VAR-NPC1-004 | NPC1c.3590A>G | p.Tyr1197Cys | VUS | 3.00e-6 | EVIDENCE // Preliminary |
| VAR-NPC1-005 | NPC1c.841G>C | p.Val281Leu | Likely Benign | 1.25e-2 | EVIDENCE // Established |