chr5:1254594:C>T Detail (hg19) (TERT)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr5:1,254,594-1,254,594 |
hg38 | chr5:1,254,479-1,254,479 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001193376.1:c.3184G>A | NP_001180305.1:p.Ala1062Thr |
NM_198253.2:c.3184G>A | NP_937983.2:p.Ala1062Thr | |
Ensemble | ENST00000334602.10:c.2995G>A | ENST00000334602.10:p.Ala999Thr |
Summary
MGeND
Clinical significance |
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Variant entry | 1 |
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
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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Esophagus |
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MGS000038
(TMGS000091) |
Manabu Muto Ichiro Kinoshita |
Kyoto University Department of Medical Oncology Faculty of Medicine and Graduate School of Medicine Hokkaido University |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2009-01-27 | no assertion criteria provided | Leukemia, acute myeloid, susceptibility to |
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Detail |
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2017-04-27 | criteria provided, single submitter | aplastic anemia |
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Detail |
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2020-03-04 | criteria provided, conflicting interpretations | not specified |
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Detail |
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2017-04-27 | criteria provided, single submitter | Dyskeratosis congenita, autosomal dominant 2 |
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Detail |
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2017-04-27 | criteria provided, single submitter | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 |
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Detail |
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2019-01-01 | criteria provided, single submitter | breast carcinoma |
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Detail |
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2023-06-28 | criteria provided, conflicting interpretations | not provided |
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Detail |
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2016-10-24 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome,dyskeratosis congenita |
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Detail |
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2016-10-24 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome,dyskeratosis congenita |
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Detail |
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2024-01-31 | criteria provided, single submitter | Idiopathic Pulmonary Fibrosis,Dyskeratosis congenita, autosomal dominant 2 |
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Detail |
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2024-01-31 | criteria provided, single submitter | Idiopathic Pulmonary Fibrosis,Dyskeratosis congenita, autosomal dominant 2 |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.248 | aplastic anemia | NA | CLINVAR | Detail | |
0.125 | Leukemia, Myelocytic, Acute | Telomerase reverse transcriptase (TERT) A1062T mutation as a prognostic factor i... | BeFree | 25108601 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) AND Leukemia, acute myeloid, susceptibility to | ClinVar | Detail |
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) AND Aplastic anemia | ClinVar | Detail |
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) AND not specified | ClinVar | Detail |
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) AND Dyskeratosis congenita, autosomal dominant 2 | ClinVar | Detail |
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) AND Pulmonary fibrosis and/or bone marrow failure, Telome... | ClinVar | Detail |
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) AND Breast carcinoma | ClinVar | Detail |
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) AND not provided | ClinVar | Detail |
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) AND multiple conditions | ClinVar | Detail |
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) AND multiple conditions | ClinVar | Detail |
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) AND multiple conditions | ClinVar | Detail |
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) AND multiple conditions | ClinVar | Detail |
NA | DisGeNET | Detail |
Telomerase reverse transcriptase (TERT) A1062T mutation as a prognostic factor in Egyptian patients ... | 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
- rs35719940 dbSNP
- Genome
- hg19
- Position
- chr5:1,254,594-1,254,594
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8020
- 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)
- 112046
- Allele Counts in All Race (ExAC)
- 1496
- Heterozygous Counts in All Race (ExAC)
- 1470
- Homozygous Counts in All Race (ExAC)
- 13
- Allele Frequency in All Race (ExAC)
- 0.013351659139996074
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