NC_000018.10:g.(?_10000)_(1543845_?)del AND Autism Detail (hg38) (ADCYAP1, CETN1, TYMS, YES1, USP14, THOC1, CLUL1, ENOSF1, LINC00470, COLEC12, TUBB8B, LINC01904, TYMSOS, MIR8078, LINC02564, LINC01925, LOC112538442, LOC112543431, LOC112543438, LOC125338459, LOC125338460, LOC125338461, LOC126862675, LOC126862676, LOC126862677, LOC129390951, LOC129390952, LOC130062069, LOC130062070, LOC130062071, LOC130062072, LOC130062073, LOC130062074, LOC130062075, LOC130062076, LOC130062077, LOC130062078, LOC130062079)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr18:10,001-1,543,846 |
hg38 | chr18:10,000-1,543,845 |
Summary
MGeND
Clinical significance |
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Variant entry | 1 |
GWAS entry | |
Disease area statistics | Show details |
ClinVar
Clinical Significance | |
Review star | [No Data.] |
Show details |
Disease area statistics
[No Data.]
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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autism |
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MGS000066
(TMGS000134) |
Itaru Kushima Itaru Kushima |
Nagoya University Nagoya university |
35667888
|
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2018-03-20 | criteria provided, single submitter | Autism |
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Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
---|
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- ENOSF1
- Genome
- hg38
- Position
- chr18:10,000-1,543,845
- Variant Type
- cnv
Genome browser