SCML1 Scm polycomb group protein like 1
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 2 |
Likely benign | 0 | 2 |
not provided | 7 | 0 |
Uncertain significance | 0 | 6 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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10 |
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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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Category | : |
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Filtering | : |
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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Category | : |
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Search word | : | |
Filtering | : |
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 |
---|---|
MIM | 300227 OMIM |
HGNC | HGNC:10580 HGNC |
Ensembl | ENSG00000047634 Ensembl |
AllianceGenome | HGNC:10580 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000398080.5 | hg38 | chrX | 17,737,449 | 17,754,988 | 17,540 |
ENST00000380045.7 | hg38 | chrX | 17,737,468 | 17,754,985 | 17,518 |
ENST00000380041.8 | hg38 | chrX | 17,737,493 | 17,754,985 | 17,493 |
ENST00000380043.7 | hg38 | chrX | 17,737,469 | 17,754,985 | 17,517 |
ENST00000398080.5 | hg19 | chrX | 17,755,569 | 17,773,108 | 17,540 |
ENST00000380045.7 | hg19 | chrX | 17,755,588 | 17,773,105 | 17,518 |
ENST00000380043.7 | hg19 | chrX | 17,755,589 | 17,773,105 | 17,517 |
ENST00000380041.8 | hg19 | chrX | 17,755,613 | 17,773,105 | 17,493 |
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