Assay Details
Target Gene Details
Entrez Gene ID: | 9499 |
Gene Name: | myotilin |
Gene Aliases: |
LGMD1, LGMD1A, MFM3, TTID, TTOD |
Location: |
Chr.5:137867282-137887851 on Build GRCh38 |
Assay Gene Location: | Within Exon 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MYOT | NM_001135940.1 | 3 | 231 | NP_001129412.1 |
NM_001300911.1 | 4 | 362 | NP_001287840.1 | |
NM_006790.2 | 3 | 713 | NP_006781.1 | |
XM_017010060.1 | 4 | 936 | XP_016865549.1 | |
XM_017010061.1 | 2 | 369 | XP_016865550.1 | |
XM_017010062.1 | 3 | 805 | XP_016865551.1 | |
AF133820.2 | 3 | 698 | AAD29051.2 | |
AF144477.1 | 3 | 684 | AAD44754.1 | |
AK300076.1 | 4 | 342 | ||
AK300088.1 | 3 | 229 | ||
AK307620.1 | 4 | 576 | ||
AK312733.1 | 3 | 693 | ||
BC005376.1 | 3 | 693 | AAH05376.1 | |
KU178476.1 | 2 | 404 | ||
KU178477.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv830501 | Chr.5:137788777 - 137977035 on Build GRCh38 | Gain | FAM13B NPY6R MYOT PKD2L2 |
esv3606913 | Chr.5:137856857 - 138124533 on Build GRCh38 | Gain | FAM13B NME5 MYOT PKD2L2 WNT8A LOC100130172 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |