STAC3 SH3 and cysteine rich domain 3
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 16 |
Likely pathogenic | 0 | 10 |
Benign | 0 | 38 |
Likely benign | 0 | 210 |
Uncertain significance | 0 | 226 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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54 |
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432 |
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2 |
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
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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
Search Word
Target data | : |
MGeND data only
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Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
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Category | : |
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Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Type | ID |
---|---|
SYNONYM | CMYP13 |
SYNONYM | MYPBB |
SYNONYM | NAM |
MIM | 615521 OMIM |
HGNC | HGNC:28423 HGNC |
Ensembl | ENSG00000185482 Ensembl |
AllianceGenome | HGNC:28423 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000554578.5 | hg38 | chr12 | 57,243,453 | 57,251,184 | 7,732 |
ENST00000546246.2 | hg38 | chr12 | 57,243,654 | 57,251,185 | 7,532 |
ENST00000332782.7 | hg38 | chr12 | 57,243,458 | 57,251,187 | 7,730 |
ENST00000554578.5 | hg19 | chr12 | 57,637,236 | 57,644,967 | 7,732 |
ENST00000332782.7 | hg19 | chr12 | 57,637,241 | 57,644,970 | 7,730 |
ENST00000546246.2 | hg19 | chr12 | 57,637,437 | 57,644,968 | 7,532 |
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