GRCh38/hg38 2q12.2-13(chr2:106516472-110576905)x3 Detail (hg38) (CD8B2, LIMS1, NPHP1, RANBP2, SULT1C2, MALL, GCC2, EDAR, SULT1C4, SLC5A7, SOWAHC, RGPD5, ST6GAL2, LIMS3, LINC01106, SEPTIN10, CCDC138, MTLN, RGPD4, SH3RF3, LINC01123, SULT1C3, GCC2-AS1, RGPD4-AS1, RGPD6, LIMS3-LOC440895, SH3RF3-AS1, LIMS4, MIR4265, MIR4267, MIR4266, MIR4436B1, MIR4436B2, LINC01594, GACAT1, LINC01789, LINC01886, LINC01885, LIMS1-AS1, LINC01593, LOC107305684, LOC107305685, LOC107305686, LOC112695112, LOC112695113, LOC112695114, LOC112695115, LOC120961778, LOC122817721, LOC122817722, LOC126806299, LOC126806300, LOC126806301, LOC126806302, LOC126806303, LOC126806304, LOC126806305, LOC126806306, LOC128966597, LOC129388896, LOC129388897, LOC129388898, LOC129388899, LOC129934519, LOC129934520, LOC129934521, LOC129934522, LOC129934523, LOC129934524, LOC129934525, LOC129934526, LOC129934527, LOC129934528, LOC129934529, LOC129934530, LOC129934531, LOC129934532, LOC129934533, LOC129934534, LOC129934535, LOC129934536, LOC129934537, LOC129934538, LOC129934539, LOC129934540, LOC129934541, LOC129934542, LOC129934543, LOC129934544, LOC129934545, LOC129934546, LOC129934547, LOC129934548, LOC129934549, LOC129934550, LOC129934551, LOC129934552, LOC129934553, LOC129934554, LOC129934555, LOC129934556)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr2:107,132,928-111,334,482 View the variant detail on this assembly version. |
hg38 | chr2:106,516,472-110,576,905 |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Links
Type | Database | ID | Link |
---|---|---|---|
Gene | MIM | ||
HGNC | |||
Ensembl | |||
NCBI | |||
Gene Cards | |||
OncoKB |
Type | Database | ID | Link |
---|---|---|---|
Variant | TogoVar | ||
COSMIC | |||
MONDO |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2012-09-21 | no assertion criteria provided |
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Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
GRCh38/hg38 2q12.2-13(chr2:106516472-110576905)x3 AND See cases | ClinVar | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
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Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- Genome
- hg38
- Position
- chr2:106,516,472-110,576,905
- Variant Type
- cnv
Genome browser