Genomic Map
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Target Gene Details
Entrez Gene ID: | 23209 |
Gene Name: | megalencephalic leukoencephalopathy with subcortical cysts 1 |
Gene Aliases: |
LVM, MLC, VL |
Location: |
Chr.22:50059391-50085929 on Build GRCh38 |
Assay Gene Location: | Within Exon 13 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| MLC1 | NM_015166.3 | 12 | 1883 | NP_055981.1 |
| NM_139202.2 | 12 | 1522 | NP_631941.1 | |
| XM_011530678.1 | 11 | 1479 | XP_011528980.1 | |
| XM_017028671.1 | 11 | 1311 | XP_016884160.1 | |
| AF319633.1 | 12 | 1445 | AAK60119.1 | |
| AK124264.1 | 12 | 1884 | ||
| AK294048.1 | ||||
| AK295106.1 | 11 | 1144 | ||
| AK297341.1 | 11 | 1243 | ||
| AK299841.1 | 11 | 1291 | ||
| BC028425.2 | 12 | 1482 | AAH28425.1 | |
| BC070042.1 | 12 | 1480 | AAH70042.1 | |
| CR456460.1 | CAG30346.1 | |||
| D25217.3 | 12 | 1559 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| nsv471222 | Chr.22:50024802 - 50157413 on Build GRCh38 | Gain |
 MLC1
MOV10L1
TTLL8
|
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Set Membership: |
Intragenic
Exonic
DGV Variation
|
Gene Ontology Categories:
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