PHF21A PHD finger protein 21A
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 36 |
Likely pathogenic | 0 | 18 |
Benign | 0 | 72 |
Likely benign | 0 | 158 |
Conflicting classifications of pathogenicity | 0 | 16 |
Uncertain significance | 0 | 170 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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46 |
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388 |
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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
[No Data.]
Locus Zoom
Variants
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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 |
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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 |
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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 | BHC80 |
SYNONYM | BM-006 |
SYNONYM | IDDBCS |
SYNONYM | NEDMS |
MIM | 608325 OMIM |
HGNC | HGNC:24156 HGNC |
Ensembl | ENSG00000135365 Ensembl |
AllianceGenome | HGNC:24156 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000690620.1 | hg38 | chr11 | 45,932,652 | 46,120,811 | 188,160 |
ENST00000418153.6 | hg38 | chr11 | 45,933,481 | 46,121,010 | 187,530 |
ENST00000525676.6 | hg38 | chr11 | 45,933,831 | 46,118,786 | 184,956 |
ENST00000323180.10 | hg38 | chr11 | 45,932,566 | 46,121,178 | 188,613 |
ENST00000676320.1 | hg38 | chr11 | 45,929,319 | 46,121,454 | 192,136 |
ENST00000323180.10 | hg19 | chr11 | 45,954,117 | 46,142,729 | 188,613 |
ENST00000676320.1 | hg19 | chr11 | 45,950,870 | 46,143,005 | 192,136 |
ENST00000418153.6 | hg19 | chr11 | 45,955,032 | 46,142,561 | 187,530 |
ENST00000525676.6 | hg19 | chr11 | 45,955,382 | 46,140,337 | 184,956 |
ENST00000690620.1 | hg19 | chr11 | 45,954,203 | 46,142,362 | 188,160 |
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