DPF1 double PHD fingers 1
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 0 | 2 |
Uncertain significance | 0 | 22 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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24 |
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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
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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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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 |
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SYNONYM | BAF45b |
SYNONYM | NEUD4 |
SYNONYM | SMARCG1 |
SYNONYM | neuro-d4 |
MIM | 601670 OMIM |
HGNC | HGNC:20225 HGNC |
Ensembl | ENSG00000011332 Ensembl |
AllianceGenome | HGNC:20225 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000355526.10 | hg38 | chr19 | 38,211,006 | 38,224,222 | 13,217 |
ENST00000414789.5 | hg38 | chr19 | 38,211,702 | 38,223,298 | 11,597 |
ENST00000412732.5 | hg38 | chr19 | 38,211,009 | 38,229,677 | 18,669 |
ENST00000686058.1 | hg38 | chr19 | 38,211,043 | 38,229,714 | 18,672 |
ENST00000456296.5 | hg38 | chr19 | 38,211,755 | 38,229,677 | 17,923 |
ENST00000689228.1 | hg38 | chr19 | 38,211,006 | 38,224,250 | 13,245 |
ENST00000416611.5 | hg38 | chr19 | 38,211,043 | 38,229,714 | 18,672 |
ENST00000614244.4 | hg38 | chr19 | 38,211,009 | 38,224,250 | 13,242 |
ENST00000420980.8 | hg38 | chr19 | 38,211,006 | 38,224,222 | 13,217 |
ENST00000420980.8 | hg19 | chr19 | 38,701,646 | 38,714,862 | 13,217 |
ENST00000355526.10 | hg19 | chr19 | 38,701,646 | 38,714,862 | 13,217 |
ENST00000412732.5 | hg19 | chr19 | 38,701,649 | 38,720,317 | 18,669 |
ENST00000416611.5 | hg19 | chr19 | 38,701,683 | 38,720,354 | 18,672 |
ENST00000414789.5 | hg19 | chr19 | 38,702,342 | 38,713,938 | 11,597 |
ENST00000456296.5 | hg19 | chr19 | 38,702,395 | 38,720,317 | 17,923 |
ENST00000686058.1 | hg19 | chr19 | 38,701,683 | 38,720,354 | 18,672 |
ENST00000614244.4 | hg19 | chr19 | 38,701,649 | 38,714,890 | 13,242 |
ENST00000689228.1 | hg19 | chr19 | 38,701,646 | 38,714,890 | 13,245 |
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