chr5:1293767:G>A Detail (hg19) (TERT)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr5:1,293,767-1,293,767 |
hg38 | chr5:1,293,652-1,293,652 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001193376.1:c.1234C>T | NP_001180305.1:p.His412Tyr |
NM_198253.2:c.1234C>T | NP_937983.2:p.His412Tyr | |
Ensemble | ENST00000310581.10:c.1234C>T | ENST00000310581.10:p.His412Tyr |
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 |
---|---|---|---|---|---|
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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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2017-04-27 | criteria provided, single submitter | aplastic anemia |
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Detail |
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2008-02-01 | no assertion criteria provided | autosomal recessive dyskeratosis congenita 4 |
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Detail |
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2018-11-06 | criteria provided, multiple submitters, no conflicts | 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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2023-10-01 | criteria provided, conflicting interpretations | not provided |
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Detail |
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2020-03-26 | criteria provided, single submitter | dyskeratosis congenita |
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Detail |
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2017-08-29 | criteria provided, single submitter | dyskeratosis congenita,Hereditary cancer-predisposing syndrome |
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Detail |
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2017-08-29 | criteria provided, single submitter | dyskeratosis congenita,Hereditary cancer-predisposing syndrome |
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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 |
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2022-11-09 | criteria provided, single submitter | acute myeloid leukemia,Dyskeratosis congenita, autosomal dominant 2,Melanoma, cutaneous malignant, susceptibility to, 9,Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 |
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Detail |
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2022-11-09 | criteria provided, single submitter | acute myeloid leukemia,Dyskeratosis congenita, autosomal dominant 2,Melanoma, cutaneous malignant, susceptibility to, 9,Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 |
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Detail |
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2022-11-09 | criteria provided, single submitter | acute myeloid leukemia,Dyskeratosis congenita, autosomal dominant 2,Melanoma, cutaneous malignant, susceptibility to, 9,Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 |
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Detail |
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2022-11-09 | criteria provided, single submitter | acute myeloid leukemia,Dyskeratosis congenita, autosomal dominant 2,Melanoma, cutaneous malignant, susceptibility to, 9,Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.248 | aplastic anemia | NA | CLINVAR | Detail | |
0.120 | DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 4 | NA | CLINVAR | Detail | |
0.240 | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 | Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic an... | UNIPROT | 15814878 | Detail |
0.240 | DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 2 | Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic an... | UNIPROT | 15814878 | Detail |
0.240 | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) AND Pulmonary fibrosis and/or bone marrow failure, Telomer... | ClinVar | Detail |
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) AND Aplastic anemia | ClinVar | Detail |
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) AND Autosomal recessive dyskeratosis congenita 4 | ClinVar | Detail |
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) AND not specified | ClinVar | Detail |
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) AND Dyskeratosis congenita, autosomal dominant 2 | ClinVar | Detail |
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) AND not provided | ClinVar | Detail |
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) AND Dyskeratosis congenita | ClinVar | Detail |
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) AND multiple conditions | ClinVar | Detail |
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) AND multiple conditions | ClinVar | Detail |
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) AND multiple conditions | ClinVar | Detail |
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) AND multiple conditions | ClinVar | Detail |
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) AND multiple conditions | ClinVar | Detail |
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) AND multiple conditions | ClinVar | Detail |
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) AND multiple conditions | ClinVar | Detail |
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) AND multiple conditions | ClinVar | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. | DisGeNET | Detail |
Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. | DisGeNET | Detail |
NA | 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
- rs34094720 dbSNP
- Genome
- hg19
- Position
- chr5:1,293,767-1,293,767
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 1042
- 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)
- 19080
- Allele Counts in All Race (ExAC)
- 121
- Heterozygous Counts in All Race (ExAC)
- 117
- Homozygous Counts in All Race (ExAC)
- 2
- Allele Frequency in All Race (ExAC)
- 0.006341719077568134
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