GDNF glial cell derived neurotrophic factor
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 2 | 50 |
Likely benign | 0 | 42 |
Conflicting classifications of pathogenicity | 0 | 6 |
risk factor | 0 | 4 |
Uncertain significance | 0 | 118 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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14 |
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190 |
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6 |
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 |
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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 | |||
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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
---|---|
SYNONYM | ATF |
SYNONYM | ATF1 |
SYNONYM | ATF2 |
SYNONYM | HFB1-GDNF |
SYNONYM | HSCR3 |
MIM | 600837 OMIM |
HGNC | HGNC:4232 HGNC |
Ensembl | ENSG00000168621 Ensembl |
AllianceGenome | HGNC:4232 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000326524.7 | hg38 | chr5 | 37,812,677 | 37,840,041 | 27,365 |
ENST00000381826.8 | hg38 | chr5 | 37,815,651 | 37,835,827 | 20,177 |
ENST00000427982.5 | hg38 | chr5 | 37,815,651 | 37,835,827 | 20,177 |
ENST00000344622.8 | hg38 | chr5 | 37,812,677 | 37,835,491 | 22,815 |
ENST00000620847.1 | hg38 | chr5 | 37,812,677 | 37,834,822 | 22,146 |
ENST00000515058.5 | hg38 | chr5 | 37,815,651 | 37,839,686 | 24,036 |
ENST00000620847.1 | hg19 | chr5 | 37,812,779 | 37,834,924 | 22,146 |
ENST00000344622.8 | hg19 | chr5 | 37,812,779 | 37,835,593 | 22,815 |
ENST00000326524.7 | hg19 | chr5 | 37,812,779 | 37,840,143 | 27,365 |
ENST00000381826.8 | hg19 | chr5 | 37,815,753 | 37,835,929 | 20,177 |
ENST00000427982.5 | hg19 | chr5 | 37,815,753 | 37,835,929 | 20,177 |
ENST00000515058.5 | hg19 | chr5 | 37,815,753 | 37,839,788 | 24,036 |
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