H3-3A H3.3 histone A
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 2 | 12 |
| Likely pathogenic | 0 | 22 |
| Likely benign | 0 | 4 |
| Conflicting classifications of pathogenicity | 0 | 4 |
| not provided | 18 | 0 |
| other | 1 | 2 |
| Uncertain significance | 0 | 42 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
8 |
 |
54 |
 |
12 |
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
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| 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
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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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| 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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | BRYLIB1 |
| SYNONYM | H3-3B |
| SYNONYM | H3.3A |
| SYNONYM | H3F3 |
| SYNONYM | H3F3A |
| MIM | 601128 OMIM |
| HGNC | HGNC:4764 HGNC |
| Ensembl | ENSG00000163041 Ensembl |
| AllianceGenome | HGNC:4764 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000366815.10 | hg38 | chr1 | 226,062,716 | 226,072,019 | 9,304 |
| ENST00000655399.1 | hg38 | chr1 | 226,062,750 | 226,071,997 | 9,248 |
| ENST00000661429.1 | hg38 | chr1 | 226,063,494 | 226,071,752 | 8,259 |
| ENST00000666609.1 | hg38 | chr1 | 226,063,466 | 226,071,521 | 8,056 |
| ENST00000667897.1 | hg38 | chr1 | 226,062,758 | 226,071,542 | 8,785 |
| ENST00000366813.1 | hg38 | chr1 | 226,063,977 | 226,072,001 | 8,025 |
| ENST00000366814.3 | hg38 | chr1 | 226,062,714 | 226,067,269 | 4,556 |
| ENST00000366816.5 | hg38 | chr1 | 226,061,851 | 226,071,523 | 9,673 |
| ENST00000366816.5 | hg19 | chr1 | 226,249,552 | 226,259,224 | 9,673 |
| ENST00000366814.3 | hg19 | chr1 | 226,250,415 | 226,254,970 | 4,556 |
| ENST00000366815.10 | hg19 | chr1 | 226,250,417 | 226,259,720 | 9,304 |
| ENST00000655399.1 | hg19 | chr1 | 226,250,451 | 226,259,698 | 9,248 |
| ENST00000667897.1 | hg19 | chr1 | 226,250,459 | 226,259,243 | 8,785 |
| ENST00000666609.1 | hg19 | chr1 | 226,251,167 | 226,259,222 | 8,056 |
| ENST00000661429.1 | hg19 | chr1 | 226,251,195 | 226,259,453 | 8,259 |
| ENST00000366813.1 | hg19 | chr1 | 226,251,678 | 226,259,702 | 8,025 |
| Key | Value |
|---|---|
| strand | + |
| start | 226,250,407 |
| Vogelstein | OG |
| Gene Symbol | H3F3A |
| Entrez GeneId | 3,020 |
| Chr Band | 1q42.12 |
| end | 226,259,702 |
| chr | chr1 |
| Name | H3 histone, family 3A |
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