AK6 adenylate kinase 6
Clinical Significance
MGeND | ClinVar | |
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not provided | 1 | 0 |
Uncertain significance | 0 | 14 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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14 |
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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
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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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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 |
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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | AD-004 |
SYNONYM | CGI-137 |
SYNONYM | CINAP |
SYNONYM | CIP |
SYNONYM | hCINAP |
MIM | 619357 OMIM |
HGNC | HGNC:49151 HGNC |
Ensembl | ENSG00000085231 Ensembl |
AllianceGenome | HGNC:49151 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000502819.5 | hg38 | chr5 | 69,351,645 | 69,369,503 | 17,859 |
ENST00000618980.1 | hg38 | chr5 | 69,355,492 | 69,369,490 | 13,999 |
ENST00000380818.7 | hg38 | chr5 | 69,351,726 | 69,370,013 | 18,288 |
ENST00000512561.5 | hg38 | chr5 | 69,351,930 | 69,369,520 | 17,591 |
ENST00000380822.9 | hg38 | chr5 | 69,350,984 | 69,369,520 | 18,537 |
ENST00000380822.9 | hg19 | chr5 | 68,646,811 | 68,665,347 | 18,537 |
ENST00000502819.5 | hg19 | chr5 | 68,647,472 | 68,665,330 | 17,859 |
ENST00000380818.7 | hg19 | chr5 | 68,647,553 | 68,665,840 | 18,288 |
ENST00000512561.5 | hg19 | chr5 | 68,647,757 | 68,665,347 | 17,591 |
ENST00000618980.1 | hg19 | chr5 | 68,651,319 | 68,665,317 | 13,999 |
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