ATG16L1 autophagy related 16 like 1
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 4 |
Likely benign | 0 | 14 |
Uncertain significance | 0 | 44 |
Ranking
ClinVar | |
---|---|
![]() |
0 |
![]() |
0 |
![]() |
2 |
![]() |
60 |
![]() |
0 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
Target data | : |
MGeND data only
|
Category | : |
|
Search word | : | |
Filtering | : |
Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
Search Word
Target data | : |
MGeND data only
|
Category | : |
|
Search word | : | |
Filtering | : |
Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
|
Category | : |
|
Search word | : | |
Filtering | : |
Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Entry | Origin | Type | Annotation |
Type | ID |
---|---|
SYNONYM | APG16L |
SYNONYM | ATG16A |
SYNONYM | ATG16L |
SYNONYM | IBD10 |
SYNONYM | WDR30 |
MIM | 610767 OMIM |
HGNC | HGNC:21498 HGNC |
Ensembl | ENSG00000085978 Ensembl |
AllianceGenome | HGNC:21498 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000347464.9 | hg38 | chr2 | 233,251,571 | 233,295,673 | 44,103 |
ENST00000373525.9 | hg38 | chr2 | 233,251,672 | 233,295,674 | 44,003 |
ENST00000392020.8 | hg38 | chr2 | 233,251,706 | 233,295,674 | 43,969 |
ENST00000392018.1 | hg38 | chr2 | 233,251,714 | 233,295,674 | 43,961 |
ENST00000392017.9 | hg38 | chr2 | 233,251,673 | 233,295,669 | 43,997 |
ENST00000347464.9 | hg19 | chr2 | 234,160,217 | 234,204,319 | 44,103 |
ENST00000373525.9 | hg19 | chr2 | 234,160,318 | 234,204,320 | 44,003 |
ENST00000392017.9 | hg19 | chr2 | 234,160,319 | 234,204,315 | 43,997 |
ENST00000392020.8 | hg19 | chr2 | 234,160,352 | 234,204,320 | 43,969 |
ENST00000392018.1 | hg19 | chr2 | 234,160,360 | 234,204,320 | 43,961 |
Genome browser