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 not provided
Variant entry 1
GWAS entry
Disease area statistics Show details

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 607427 OMIM
HGNC 30365 HGNC
Ensembl ENSG00000132199 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided autism not provided MGS000066
(TMGS000134)
Itaru Kushima
Itaru Kushima
Nagoya University
Nagoya university
35667888
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2018-03-20 criteria provided, single submitter Autism germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NC_000018.10:g.(?_10000)_(1543845_?)del AND Autism ClinVar Detail

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