RAD51C RAD51 paralog C
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 9 | 404 |
| Likely pathogenic | 2 | 240 |
| Benign | 20 | 68 |
| Likely benign | 3 | 1,044 |
| Conflicting classifications of pathogenicity | 0 | 296 |
| not provided | 118 | 0 |
| other | 1 | 0 |
| Uncertain significance | 70 | 1,890 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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1,658 |
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1,794 |
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38 |
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
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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
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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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| 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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | BROVCA3 |
| SYNONYM | FANCO |
| SYNONYM | R51H3 |
| SYNONYM | RAD51L2 |
| MIM | 602774 OMIM |
| HGNC | HGNC:9820 HGNC |
| Ensembl | ENSG00000108384 Ensembl |
| AllianceGenome | HGNC:9820 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000421782.3 | hg38 | chr17 | 58,692,628 | 58,695,336 | 2,709 |
| ENST00000697686.1 | hg38 | chr17 | 58,692,596 | 58,734,477 | 41,882 |
| ENST00000697694.1 | hg38 | chr17 | 58,692,882 | 58,734,617 | 41,736 |
| ENST00000697690.1 | hg38 | chr17 | 58,692,602 | 58,734,546 | 41,945 |
| ENST00000461271.6 | hg38 | chr17 | 58,692,573 | 58,734,311 | 41,739 |
| ENST00000337432.9 | hg38 | chr17 | 58,692,602 | 58,735,611 | 43,010 |
| ENST00000583539.5 | hg38 | chr17 | 58,692,573 | 58,732,766 | 40,194 |
| ENST00000583539.5 | hg19 | chr17 | 56,769,934 | 56,810,127 | 40,194 |
| ENST00000337432.9 | hg19 | chr17 | 56,769,963 | 56,812,972 | 43,010 |
| ENST00000421782.3 | hg19 | chr17 | 56,769,989 | 56,772,697 | 2,709 |
| ENST00000461271.6 | hg19 | chr17 | 56,769,934 | 56,811,672 | 41,739 |
| ENST00000697686.1 | hg19 | chr17 | 56,769,957 | 56,811,838 | 41,882 |
| ENST00000697690.1 | hg19 | chr17 | 56,769,963 | 56,811,907 | 41,945 |
| ENST00000697694.1 | hg19 | chr17 | 56,770,243 | 56,811,978 | 41,736 |
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