NKX2-1 NK2 homeobox 1
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 9 | 148 |
| Likely pathogenic | 1 | 100 |
| Benign | 2 | 40 |
| Likely benign | 0 | 134 |
| Conflicting classifications of pathogenicity | 0 | 24 |
| not provided | 6 | 0 |
| Uncertain significance | 0 | 190 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
78 |
 |
490 |
 |
14 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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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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| 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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| 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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | BCH |
| SYNONYM | BHC |
| SYNONYM | NK-2 |
| SYNONYM | NKX2.1 |
| SYNONYM | NKX2A |
| SYNONYM | NMTC1 |
| SYNONYM | T/EBP |
| SYNONYM | TEBP |
| SYNONYM | TITF1 |
| SYNONYM | TTF-1 |
| SYNONYM | TTF1 |
| MIM | 600635 OMIM |
| HGNC | HGNC:11825 HGNC |
| Ensembl | ENSG00000136352 Ensembl |
| AllianceGenome | HGNC:11825 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000498187.6 | hg38 | chr14 | 36,516,392 | 36,519,693 | 3,302 |
| ENST00000518149.5 | hg38 | chr14 | 36,516,417 | 36,521,149 | 4,733 |
| ENST00000522719.4 | hg38 | chr14 | 36,517,217 | 36,520,949 | 3,733 |
| ENST00000354822.7 | hg38 | chr14 | 36,516,397 | 36,520,232 | 3,836 |
| ENST00000498187.6 | hg19 | chr14 | 36,985,597 | 36,988,898 | 3,302 |
| ENST00000354822.7 | hg19 | chr14 | 36,985,602 | 36,989,437 | 3,836 |
| ENST00000518149.5 | hg19 | chr14 | 36,985,622 | 36,990,354 | 4,733 |
| ENST00000522719.4 | hg19 | chr14 | 36,986,422 | 36,990,154 | 3,733 |
| Key | Value |
|---|---|
| strand | - |
| start | 36,985,603 |
| Gene Symbol | NKX2-1 |
| Entrez GeneId | 7,080 |
| Chr Band | 14q13 |
| end | 36,989,429 |
| chr | chr14 |
| Name | NK2 homeobox 1 |
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