chr12:57012866:T>C Detail (hg38) (TAC3)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:57,406,650-57,406,650 View the variant detail on this assembly version. |
| hg38 | chr12:57,012,866-57,012,866 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001178054.1:c.239-414A>G | |
| NM_013251.3:c.248A>G | NP_037383.1:p.His83Arg | |
| NR_135165.1:c.248A>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 | Conflicting classifications of pathogenicity |
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Likely pathogenic
|
2014-11-01 | criteria provided, single submitter | Delayed puberty |
unknown
|
Detail |
Pathogenic
|
no assertion criteria provided | Infertility disorder |
germline
|
Detail | |
Uncertain significance
|
2023-10-01 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_013251.4(TAC3):c.248A>G (p.His83Arg) AND Delayed puberty | ClinVar | Detail |
| NM_013251.4(TAC3):c.248A>G (p.His83Arg) AND Infertility disorder | ClinVar | Detail |
| NM_013251.4(TAC3):c.248A>G (p.His83Arg) AND not provided | ClinVar | 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
- rs143862988 dbSNP
- Genome
- hg38
- Position
- chr12:57,012,866-57,012,866
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- 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)
- 121392
- Allele Counts in All Race (ExAC)
- 20
- Heterozygous Counts in All Race (ExAC)
- 20
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 1.6475550283379464E-4
Genome browser