DDR1 discoidin domain receptor tyrosine kinase 1
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 4 |
Likely benign | 0 | 10 |
not provided | 25 | 0 |
Uncertain significance | 0 | 72 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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86 |
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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
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 | |||||
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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 | |||
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Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
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Category | : |
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Search word | : | |
Filtering | : |
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 |
---|---|
SYNONYM | CAK |
SYNONYM | CD167 |
SYNONYM | DDR |
SYNONYM | EDDR1 |
SYNONYM | HGK2 |
SYNONYM | MCK10 |
SYNONYM | NEP |
SYNONYM | NTRK4 |
SYNONYM | PTK3 |
SYNONYM | PTK3A |
SYNONYM | RTK6 |
SYNONYM | TRKE |
MIM | 600408 OMIM |
HGNC | HGNC:2730 HGNC |
Ensembl | ENSG00000204580 Ensembl |
AllianceGenome | HGNC:2730 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000454612.6 | hg38 | chr6 | 30,882,955 | 30,900,156 | 17,202 |
ENST00000513240.5 | hg38 | chr6 | 30,888,730 | 30,899,418 | 10,689 |
ENST00000376569.7 | hg38 | chr6 | 30,884,069 | 30,900,156 | 16,088 |
ENST00000376567.6 | hg38 | chr6 | 30,888,389 | 30,900,156 | 11,768 |
ENST00000376568.8 | hg38 | chr6 | 30,884,519 | 30,900,156 | 15,638 |
ENST00000324771.12 | hg38 | chr6 | 30,880,849 | 30,900,154 | 19,306 |
ENST00000446312.5 | hg38 | chr6 | 30,888,688 | 30,900,152 | 11,465 |
ENST00000418800.6 | hg38 | chr6 | 30,882,613 | 30,899,840 | 17,228 |
ENST00000376570.8 | hg38 | chr6 | 30,884,084 | 30,900,152 | 16,069 |
ENST00000376575.7 | hg38 | chr6 | 30,888,730 | 30,892,168 | 3,439 |
ENST00000508312.5 | hg38 | chr6 | 30,884,968 | 30,899,432 | 14,465 |
ENST00000452441.5 | hg38 | chr6 | 30,884,550 | 30,900,152 | 15,603 |
ENST00000376568.8 | hg19 | chr6 | 30,852,296 | 30,867,933 | 15,638 |
ENST00000376569.7 | hg19 | chr6 | 30,851,846 | 30,867,933 | 16,088 |
ENST00000376570.8 | hg19 | chr6 | 30,851,861 | 30,867,929 | 16,069 |
ENST00000452441.5 | hg19 | chr6 | 30,852,327 | 30,867,929 | 15,603 |
ENST00000376567.6 | hg19 | chr6 | 30,856,166 | 30,867,933 | 11,768 |
ENST00000446312.5 | hg19 | chr6 | 30,856,465 | 30,867,929 | 11,465 |
ENST00000376575.7 | hg19 | chr6 | 30,856,507 | 30,859,945 | 3,439 |
ENST00000454612.6 | hg19 | chr6 | 30,850,732 | 30,867,933 | 17,202 |
ENST00000324771.12 | hg19 | chr6 | 30,848,626 | 30,867,931 | 19,306 |
ENST00000418800.6 | hg19 | chr6 | 30,850,390 | 30,867,617 | 17,228 |
ENST00000513240.5 | hg19 | chr6 | 30,856,507 | 30,867,195 | 10,689 |
ENST00000508312.5 | hg19 | chr6 | 30,852,745 | 30,867,209 | 14,465 |
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