chr11:66293652:T>G Detail (hg19) (BBS1, ZDHHC24)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:66,293,652-66,293,652 |
| hg38 | chr11:66,526,181-66,526,181 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_024649.4:c.1169T>G | NP_078925.3:p.Met390Arg |
| Ensemble | ENST00000393994.4:c.782T>G | ENST00000393994.4:p.Met261Arg |
| ENST00000630659.2:c.*876T>G |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001348571.1:c.*21+755A>C | |
| Ensemble | ENST00000526986.5:c.*21+755A>C |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance |
Pathogenic
Likely pathogenic
|
| Review star |  |
| Show details | |
Links
| Type | Database | ID | Link |
|---|---|---|---|
| Gene | MIM | 209901 | OMIM |
| HGNC | 966 | HGNC | |
| Ensembl | ENSG00000174483 | Ensembl | |
| NCBI | NCBI | ||
| Gene Cards | Gene Cards | ||
| OncoKB | OncoKB |
| Type | Database | ID | Link |
|---|---|---|---|
| Variant | TogoVar | ||
| COSMIC | |||
| MONDO |
| Type | Database | ID | Link |
|---|---|---|---|
| Gene | MIM | ||
| HGNC | 27387 | HGNC | |
| Ensembl | ENSG00000174165 | Ensembl | |
| NCBI | NCBI | ||
| Gene Cards | Gene Cards | ||
| OncoKB | OncoKB |
| Type | Database | ID | Link |
|---|---|---|---|
| Variant | TogoVar | ||
| COSMIC | |||
| MONDO |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
Likely pathogenic
|
2023-02-20 | criteria provided, multiple submitters, no conflicts | Bardet-Biedl syndrome 1 |
biparental
germline
inherited
maternal
unknown
|
Detail |
|
Pathogenic
|
2024-03-01 | criteria provided, multiple submitters, no conflicts | not provided |
germline
unknown
|
Detail |
|
Pathogenic
|
2024-01-31 | criteria provided, multiple submitters, no conflicts | Bardet-Biedl syndrome |
germline
unknown
|
Detail |
|
Pathogenic
|
2019-08-15 | criteria provided, single submitter | Retinal dystrophy |
germline
unknown
|
Detail |
|
Pathogenic
Likely pathogenic
|
2019-06-23 | no assertion criteria provided | retinitis pigmentosa |
inherited
unknown
|
Detail |
|
Pathogenic
|
2018-04-01 | no assertion criteria provided | Usher syndrome |
unknown
|
Detail |
|
Pathogenic
|
2021-10-15 | criteria provided, single submitter |
germline
|
Detail | |
|
Pathogenic
|
2021-01-06 | criteria provided, single submitter | Inborn genetic diseases |
germline
|
Detail |
|
Pathogenic
|
2024-02-01 | criteria provided, single submitter | BBS1-related disorder |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.001 | Retinal Diseases | (IOVS 2006) and in the Bbs1-M390R knock-in mouse model, and expands it to the ch... | BeFree | 22940089 | Detail |
| 0.002 | Bardet-Biedl syndrome | Furthermore, we show that BBS1 with the M390R mutation, responsible for 30% of a... | BeFree | 25402481 | Detail |
| 0.003 | Retinal Diseases | (IOVS 2006) and in the Bbs1-M390R knock-in mouse model, and expands it to the ch... | BeFree | 22940089 | Detail |
| 0.001 | Retinal Diseases | (IOVS 2006) and in the Bbs1-M390R knock-in mouse model, and expands it to the ch... | BeFree | 22940089 | Detail |
| 0.365 | Bardet-Biedl syndrome | Furthermore, we show that BBS1 with the M390R mutation, responsible for 30% of a... | BeFree | 25402481 | Detail |
| <0.001 | Autosomal recessive retinitis pigmentosa | To investigate the involvement of the Bardet-Biedl syndrome (BBS) gene BBS1 p.M3... | BeFree | 23143442 | Detail |
| 0.369 | Bardet-Biedl syndrome | Phenotypic expression of Bardet-Biedl syndrome in patients homozygous for the co... | BeFree | 22940089 | Detail |
| 0.321 | Bardet-Biedl syndrome 1 (disorder) | BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a re... | UNIPROT | 21344540 | Detail |
| 0.378 | Bardet-Biedl syndrome | To investigate the involvement of the Bardet-Biedl syndrome (BBS) gene BBS1 p.M3... | BeFree | 23143442 | Detail |
| 0.369 | Bardet-Biedl syndrome | Furthermore, we show that BBS1 with the M390R mutation, responsible for 30% of a... | BeFree | 25402481 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) AND Bardet-Biedl syndrome 1 | ClinVar | Detail |
| NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) AND not provided | ClinVar | Detail |
| NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) AND Bardet-Biedl syndrome | ClinVar | Detail |
| NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) AND Retinal dystrophy | ClinVar | Detail |
| NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) AND Retinitis pigmentosa | ClinVar | Detail |
| NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) AND Usher syndrome | ClinVar | Detail |
| NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) AND See cases | ClinVar | Detail |
| NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) AND Inborn genetic diseases | ClinVar | Detail |
| NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) AND BBS1-related disorder | ClinVar | Detail |
| (IOVS 2006) and in the Bbs1-M390R knock-in mouse model, and expands it to the characterization of im... | DisGeNET | Detail |
| Furthermore, we show that BBS1 with the M390R mutation, responsible for 30% of all reported BBS dise... | DisGeNET | Detail |
| (IOVS 2006) and in the Bbs1-M390R knock-in mouse model, and expands it to the characterization of im... | DisGeNET | Detail |
| (IOVS 2006) and in the Bbs1-M390R knock-in mouse model, and expands it to the characterization of im... | DisGeNET | Detail |
| Furthermore, we show that BBS1 with the M390R mutation, responsible for 30% of all reported BBS dise... | DisGeNET | Detail |
| To investigate the involvement of the Bardet-Biedl syndrome (BBS) gene BBS1 p.M390R variant in nonsy... | DisGeNET | Detail |
| Phenotypic expression of Bardet-Biedl syndrome in patients homozygous for the common M390R mutation ... | DisGeNET | Detail |
| BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the diseas... | DisGeNET | Detail |
| To investigate the involvement of the Bardet-Biedl syndrome (BBS) gene BBS1 p.M390R variant in nonsy... | DisGeNET | Detail |
| Furthermore, we show that BBS1 with the M390R mutation, responsible for 30% of all reported BBS dise... | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs113624356 dbSNP
- Genome
- hg19
- Position
- chr11:66,293,652-66,293,652
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- G
- East Asian Chromosome Counts (ExAC)
- 8654
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 121308
- Allele Counts in All Race (ExAC)
- 180
- Heterozygous Counts in All Race (ExAC)
- 180
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 0.001483826293401919
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