chr2:48950850:A>G Detail (hg19) (LHCGR, STON1-GTF2A1L)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:48,950,850-48,950,850 |
| hg38 | chr2:48,723,711-48,723,711 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000233.3:c.384-15T>C | |
| Ensemble | ENST00000294954.12:c.384-15T>C | |
| ENST00000401907.5:c.384-15T>C |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001198593.1:c.3441+52031A>G | |
| Ensemble | ENST00000402114.6:c.3441+52031A>G |
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 |
Uncertain significance
|
| Review star |  |
| Show details | |
Links
| Type | Database | ID | Link |
|---|---|---|---|
| Gene | MIM | 152790 | OMIM |
| HGNC | 6585 | HGNC | |
| Ensembl | ENSG00000138039 | Ensembl | |
| NCBI | NCBI | ||
| Gene Cards | Gene Cards | ||
| OncoKB | OncoKB |
| Type | Database | ID | Link |
|---|---|---|---|
| Variant | TogoVar | ||
| COSMIC | |||
| MONDO |
| Type | Database | ID | Link |
|---|---|---|---|
| Gene | MIM | ||
| HGNC | 30651 | HGNC | |
| Ensembl | ENSG00000068781 | 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 |
|---|---|---|---|---|---|
|
Uncertain significance
|
2018-01-13 | criteria provided, single submitter | Leydig cell agenesis |
germline
|
Detail |
|
Uncertain significance
|
2016-06-14 | criteria provided, single submitter |
germline
|
Detail | |
|
Uncertain significance
|
2018-01-13 | criteria provided, single submitter | Gonadotropin-independent familial sexual precocity |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000233.4(LHCGR):c.384-15T>C AND Leydig cell agenesis | ClinVar | Detail |
| NM_000233.4(LHCGR):c.384-15T>C AND Hypergonadotropic hypogonadism | ClinVar | Detail |
| NM_000233.4(LHCGR):c.384-15T>C AND Gonadotropin-independent familial sexual precocity | ClinVar | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs753540458 dbSNP
- Genome
- hg19
- Position
- chr2:48,950,850-48,950,850
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- East Asian Chromosome Counts (ExAC)
- 8644
- 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)
- 121342
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.241169586787756E-6
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