HNRNPH2 heterogeneous nuclear ribonucleoprotein H2
Information
- Symbol
- HNRNPH2
- Type
- protein-coding
- Description
- heterogeneous nuclear ribonucleoprotein H2
- Entrez Gene ID
- 3188
- Genome
- hg19
- Position
- chrX:100,663,210-100,669,121
- Genome
- hg38
- Position
- chrX:101,408,222-101,414,133
- MIM
- 300610 OMIM
- HGNC
- HGNC:5042 HGNC
- Ensembl
- ENSG00000126945 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 8 |
Likely pathogenic | 0 | 12 |
Benign | 0 | 4 |
Likely benign | 0 | 22 |
Conflicting classifications of pathogenicity | 0 | 2 |
not provided | 6 | 0 |
Uncertain significance | 0 | 26 |
Ranking
ClinVar | |
---|---|
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0 |
![]() |
0 |
![]() |
10 |
![]() |
56 |
![]() |
4 |
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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Category | : |
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Search word | : | |
Filtering | : |
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
Target data | : |
MGeND data only
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Category | : |
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Search word | : | |
Filtering | : |
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
|
Category | : |
|
Search word | : | |
Filtering | : |
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 | FTP3 |
SYNONYM | HNRPH' |
SYNONYM | HNRPH2 |
SYNONYM | MRXSB |
SYNONYM | NRPH2 |
SYNONYM | hnRNPH' |
MIM | 300610 OMIM |
HGNC | HGNC:5042 HGNC |
Ensembl | ENSG00000126945 Ensembl |
AllianceGenome | HGNC:5042 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000316594.6 | hg38 | chrX | 101,408,222 | 101,414,133 | 5,912 |
ENST00000316594.6 | hg19 | chrX | 100,663,210 | 100,669,121 | 5,912 |
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