chr5:1254395:C>T Detail (hg38) (TERT)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr5:1,254,510-1,254,510 View the variant detail on this assembly version. |
hg38 | chr5:1,254,395-1,254,395 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001193376.1:c.3268G>A | NP_001180305.1:p.Val1090Met |
NM_198253.2:c.3268G>A | NP_937983.2:p.Val1090Met | |
Ensemble | ENST00000310581.10:c.3268G>A | ENST00000310581.10:p.Val1090Met |
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 |
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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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2005-04-07 | no assertion criteria provided | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 |
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Detail |
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no assertion provided | aplastic anemia |
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Detail | |
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2020-10-25 | criteria provided, single submitter | interstitial lung disease 2,Dyskeratosis congenita, autosomal dominant 2 |
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Detail |
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2020-10-25 | criteria provided, single submitter | interstitial lung disease 2,Dyskeratosis congenita, autosomal dominant 2 |
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Detail |
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2019-05-28 | criteria provided, single submitter | interstitial lung disease 2 |
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Detail |
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2023-09-25 | criteria provided, multiple submitters, no conflicts | Dyskeratosis congenita, autosomal dominant 2 |
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Detail |
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2022-05-12 | criteria provided, single submitter | acute myeloid leukemia,Dyskeratosis congenita, autosomal dominant 1,interstitial lung disease 2,Dyskeratosis congenita, autosomal dominant 2,Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1,aplastic anemia,Melanoma, cutaneous malignant, susceptibility to, 9 |
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Detail |
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2022-05-12 | criteria provided, single submitter | acute myeloid leukemia,Dyskeratosis congenita, autosomal dominant 1,interstitial lung disease 2,Dyskeratosis congenita, autosomal dominant 2,Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1,aplastic anemia,Melanoma, cutaneous malignant, susceptibility to, 9 |
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Detail |
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2022-05-12 | criteria provided, single submitter | acute myeloid leukemia,Dyskeratosis congenita, autosomal dominant 1,interstitial lung disease 2,Dyskeratosis congenita, autosomal dominant 2,Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1,aplastic anemia,Melanoma, cutaneous malignant, susceptibility to, 9 |
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Detail |
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2022-05-12 | criteria provided, single submitter | acute myeloid leukemia,Dyskeratosis congenita, autosomal dominant 1,interstitial lung disease 2,Dyskeratosis congenita, autosomal dominant 2,Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1,aplastic anemia,Melanoma, cutaneous malignant, susceptibility to, 9 |
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Detail |
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2022-05-12 | criteria provided, single submitter | acute myeloid leukemia,Dyskeratosis congenita, autosomal dominant 1,interstitial lung disease 2,Dyskeratosis congenita, autosomal dominant 2,Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1,aplastic anemia,Melanoma, cutaneous malignant, susceptibility to, 9 |
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Detail |
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2022-05-12 | criteria provided, single submitter | acute myeloid leukemia,Dyskeratosis congenita, autosomal dominant 1,interstitial lung disease 2,Dyskeratosis congenita, autosomal dominant 2,Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1,aplastic anemia,Melanoma, cutaneous malignant, susceptibility to, 9 |
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Detail |
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2022-05-12 | criteria provided, single submitter | acute myeloid leukemia,Dyskeratosis congenita, autosomal dominant 1,interstitial lung disease 2,Dyskeratosis congenita, autosomal dominant 2,Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1,aplastic anemia,Melanoma, cutaneous malignant, susceptibility to, 9 |
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Detail |
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2022-11-07 | criteria provided, single submitter | not provided |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.248 | aplastic anemia | NA | CLINVAR | 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.3268G>A (p.Val1090Met) AND Pulmonary fibrosis and/or bone marrow failure, Telome... | ClinVar | Detail |
NM_198253.3(TERT):c.3268G>A (p.Val1090Met) AND Aplastic anemia | ClinVar | Detail |
NM_198253.3(TERT):c.3268G>A (p.Val1090Met) AND multiple conditions | ClinVar | Detail |
NM_198253.3(TERT):c.3268G>A (p.Val1090Met) AND multiple conditions | ClinVar | Detail |
NM_198253.3(TERT):c.3268G>A (p.Val1090Met) AND Interstitial lung disease 2 | ClinVar | Detail |
NM_198253.3(TERT):c.3268G>A (p.Val1090Met) AND Dyskeratosis congenita, autosomal dominant 2 | ClinVar | Detail |
NM_198253.3(TERT):c.3268G>A (p.Val1090Met) AND multiple conditions | ClinVar | Detail |
NM_198253.3(TERT):c.3268G>A (p.Val1090Met) AND multiple conditions | ClinVar | Detail |
NM_198253.3(TERT):c.3268G>A (p.Val1090Met) AND multiple conditions | ClinVar | Detail |
NM_198253.3(TERT):c.3268G>A (p.Val1090Met) AND multiple conditions | ClinVar | Detail |
NM_198253.3(TERT):c.3268G>A (p.Val1090Met) AND multiple conditions | ClinVar | Detail |
NM_198253.3(TERT):c.3268G>A (p.Val1090Met) AND multiple conditions | ClinVar | Detail |
NM_198253.3(TERT):c.3268G>A (p.Val1090Met) AND multiple conditions | ClinVar | Detail |
NM_198253.3(TERT):c.3268G>A (p.Val1090Met) AND not provided | ClinVar | Detail |
NA | 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
- rs121918664 dbSNP
- Genome
- hg38
- Position
- chr5:1,254,395-1,254,395
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8566
- 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)
- 119366
- Allele Counts in All Race (ExAC)
- 7
- Heterozygous Counts in All Race (ExAC)
- 7
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 5.8643164720272105E-5
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