BABAM1 BRISC and BRCA1 A complex member 1
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 2 |
| Uncertain significance | 0 | 28 |
Ranking
| ClinVar | |
|---|---|
![]() |
0 |
![]() |
0 |
![]() |
0 |
![]() |
30 |
![]() |
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
[No Data.]
Locus Zoom
Variants
Search Word
| Target data | : |
MGeND data only
|
| Category | : |
|
| Search word | : | |
| Filtering | : |
| 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
| Target data | : |
MGeND data only
|
| Category | : |
|
| Search word | : | |
| Filtering | : |
| 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
|
| Category | : |
|
| Search word | : | |
| Filtering | : |
| 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 | C19orf62 |
| SYNONYM | HSPC142 |
| SYNONYM | MERIT40 |
| SYNONYM | NBA1 |
| MIM | 612766 OMIM |
| HGNC | HGNC:25008 HGNC |
| Ensembl | ENSG00000105393 Ensembl |
| AllianceGenome | HGNC:25008 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000359435.8 | hg38 | chr19 | 17,267,386 | 17,279,337 | 11,952 |
| ENST00000447614.6 | hg38 | chr19 | 17,267,376 | 17,279,048 | 11,673 |
| ENST00000595632.5 | hg38 | chr19 | 17,267,502 | 17,279,172 | 11,671 |
| ENST00000598188.6 | hg38 | chr19 | 17,267,443 | 17,279,337 | 11,895 |
| ENST00000601043.5 | hg38 | chr19 | 17,267,443 | 17,279,337 | 11,895 |
| ENST00000447614.6 | hg19 | chr19 | 17,378,185 | 17,389,857 | 11,673 |
| ENST00000359435.8 | hg19 | chr19 | 17,378,195 | 17,390,146 | 11,952 |
| ENST00000595632.5 | hg19 | chr19 | 17,378,311 | 17,389,981 | 11,671 |
| ENST00000601043.5 | hg19 | chr19 | 17,378,252 | 17,390,146 | 11,895 |
| ENST00000598188.6 | hg19 | chr19 | 17,378,252 | 17,390,146 | 11,895 |
Genome browser




