FAM161A FAM161 centrosomal protein A
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 224 |
Likely pathogenic | 0 | 116 |
Benign | 0 | 40 |
Likely benign | 0 | 668 |
Conflicting classifications of pathogenicity | 0 | 52 |
not provided | 1 | 0 |
Uncertain significance | 0 | 574 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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180 |
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1,374 |
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10 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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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Search word | : | |
Filtering | : |
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 | RP28 |
MIM | 613596 OMIM |
HGNC | HGNC:25808 HGNC |
Ensembl | ENSG00000170264 Ensembl |
AllianceGenome | HGNC:25808 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000404929.6 | hg38 | chr2 | 61,824,848 | 61,854,060 | 29,213 |
ENST00000405894.3 | hg38 | chr2 | 61,824,856 | 61,854,143 | 29,288 |
ENST00000404929.6 | hg19 | chr2 | 62,051,983 | 62,081,195 | 29,213 |
ENST00000405894.3 | hg19 | chr2 | 62,051,991 | 62,081,278 | 29,288 |
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