FAM111B FAM111 trypsin like peptidase B
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 6 |
Likely pathogenic | 0 | 8 |
Benign | 0 | 8 |
Likely benign | 0 | 18 |
Conflicting classifications of pathogenicity | 0 | 2 |
not provided | 0 | 12 |
Uncertain significance | 0 | 96 |
Ranking
ClinVar | |
---|---|
![]() |
0 |
![]() |
0 |
![]() |
2 |
![]() |
128 |
![]() |
6 |
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 | CANP |
SYNONYM | POIKTMP |
MIM | 615584 OMIM |
HGNC | HGNC:24200 HGNC |
Ensembl | ENSG00000189057 Ensembl |
AllianceGenome | HGNC:24200 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000343597.4 | hg38 | chr11 | 59,107,237 | 59,127,412 | 20,176 |
ENST00000620384.1 | hg38 | chr11 | 59,109,534 | 59,127,410 | 17,877 |
ENST00000411426.1 | hg38 | chr11 | 59,107,185 | 59,127,410 | 20,226 |
ENST00000529618.5 | hg38 | chr11 | 59,107,236 | 59,126,436 | 19,201 |
ENST00000411426.1 | hg19 | chr11 | 58,874,658 | 58,894,883 | 20,226 |
ENST00000529618.5 | hg19 | chr11 | 58,874,709 | 58,893,909 | 19,201 |
ENST00000343597.4 | hg19 | chr11 | 58,874,710 | 58,894,885 | 20,176 |
ENST00000620384.1 | hg19 | chr11 | 58,877,007 | 58,894,883 | 17,877 |
Genome browser