chr17:45388586:T>A Detail (hg19) (ITGB3, EFCAB13-DT)

Information

Genome

Assembly Position
hg19 chr17:45,388,586-45,388,586
hg38 chr17:47,311,220-47,311,220 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000212.2:c.*1016T>A
Ensemble ENST00000559488.7:c.*1016T>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.787
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 173470 OMIM
HGNC 6156 HGNC
Ensembl ENSG00000259207 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv57963307 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-01-12 criteria provided, single submitter Glanzmann thrombasthenia germline Detail
Benign 2020-04-28 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 asthma Our results revealed that rs3809865 was significantly associated with asthma due... BeFree 23451109 Detail
0.137 autistic disorder Analyzing four markers in SLC6A4 and four markers in ITGB3 in 117 white family t... BeFree 17999363 Detail
0.268 autistic disorder Analyzing four markers in SLC6A4 and four markers in ITGB3 in 117 white family t... BeFree 17999363 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000212.3(ITGB3):c.*1016T>A AND Glanzmann thrombasthenia ClinVar Detail
NM_000212.3(ITGB3):c.*1016T>A AND not provided ClinVar Detail
Our results revealed that rs3809865 was significantly associated with asthma due to its effect on th... DisGeNET Detail
Analyzing four markers in SLC6A4 and four markers in ITGB3 in 117 white family triads with autism an... DisGeNET Detail
Analyzing four markers in SLC6A4 and four markers in ITGB3 in 117 white family triads with autism an... DisGeNET 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
-
dbSNP
rs3809865 dbSNP
Genome
hg19
Position
chr17:45,388,586-45,388,586
Variant Type
snv
Reference Allele
T
Alternative Allele
A
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))
rs3809865
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.7872
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
13194
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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