chr16:88707485:C>T Detail (hg38) (CTU2)

Information

Genome

Assembly Position
hg19 chr16:88,773,893-88,773,893 View the variant detail on this assembly version.
hg38 chr16:88,707,485-88,707,485

HGVS

Type Transcript Protein
RefSeq NM_001012762.2:c.143+275C>T
NM_001012759.2:c.143+275C>T
NM_001318513.1:c.143+275C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.877
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 617057 OMIM
HGNC 28005 HGNC
Ensembl ENSG00000174177 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv56589035 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 Autism Spectrum Disorders A genome-wide association study of autism using the Simons Simplex Collection: D... GWASCAT 25534755 Detail
0.120 Autism Spectrum Disorders A genome-wide association study of autism using the Simons Simplex Collection: D... GWASCAT 25534755 Detail
Annotation

Annotations

DescrptionSourceLinks
A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenoty... DisGeNET Detail
A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenoty... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs11641365 dbSNP
Genome
hg38
Position
chr16:88,707,485-88,707,485
Variant Type
snv
Reference Allele
C
Alternative Allele
T
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs11641365
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.8775
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
14707
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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