NT5C3A 5'-nucleotidase, cytosolic IIIA
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 30 |
| Likely pathogenic | 0 | 6 |
| Benign | 0 | 54 |
| Likely benign | 0 | 42 |
| Conflicting classifications of pathogenicity | 0 | 2 |
| Uncertain significance | 0 | 100 |
Ranking
| ClinVar | |
|---|---|
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0 |
![]() |
0 |
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30 |
![]() |
180 |
![]() |
20 |
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
| 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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
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| 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
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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 | NT5C3 |
| SYNONYM | P5'N-1 |
| SYNONYM | P5N-1 |
| SYNONYM | PN-I |
| SYNONYM | POMP |
| SYNONYM | PSN1 |
| SYNONYM | UMPH |
| SYNONYM | UMPH1 |
| SYNONYM | cN-III |
| SYNONYM | hUMP1 |
| SYNONYM | p36 |
| MIM | 606224 OMIM |
| HGNC | HGNC:17820 HGNC |
| Ensembl | ENSG00000122643 Ensembl |
| AllianceGenome | HGNC:17820 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000643244.1 | hg38 | chr7 | 33,014,130 | 33,040,900 | 26,771 |
| ENST00000610140.7 | hg38 | chr7 | 33,014,130 | 33,062,776 | 48,647 |
| ENST00000409787.4 | hg38 | chr7 | 33,017,204 | 33,035,983 | 18,780 |
| ENST00000409467.6 | hg38 | chr7 | 33,014,451 | 33,040,909 | 26,459 |
| ENST00000643244.1 | hg19 | chr7 | 33,053,742 | 33,080,512 | 26,771 |
| ENST00000610140.7 | hg19 | chr7 | 33,053,742 | 33,102,388 | 48,647 |
| ENST00000409467.6 | hg19 | chr7 | 33,054,063 | 33,080,521 | 26,459 |
| ENST00000409787.4 | hg19 | chr7 | 33,056,816 | 33,075,595 | 18,780 |
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