chr5:1266524:C>T Detail (hg38) (TERT)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr5:1,266,639-1,266,639 View the variant detail on this assembly version. |
hg38 | chr5:1,266,524-1,266,524 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001193376.1:c.2594G>A | NP_001180305.1:p.Arg865His |
NM_198253.2:c.2594G>A | NP_937983.2:p.Arg865His | |
Ensemble | ENST00000310581.10:c.2594G>A | ENST00000310581.10:p.Arg865His |
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 |
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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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other |
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MGS000001
(TMGS000138) |
Kenjiro Kosaki | Keio University |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2022-05-19 | criteria provided, single submitter | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 |
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Detail |
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2018-05-06 | no assertion criteria provided | interstitial lung disease 2 |
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Detail |
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2017-10-18 | criteria provided, single submitter | not provided |
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Detail |
Likely risk allele | 2022-06-09 | no assertion criteria provided |
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Detail | |
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2023-11-17 | criteria provided, single submitter | Idiopathic Pulmonary Fibrosis,Dyskeratosis congenita, autosomal dominant 2 |
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Detail |
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2023-11-17 | criteria provided, single submitter | Idiopathic Pulmonary Fibrosis,Dyskeratosis congenita, autosomal dominant 2 |
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Detail |
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2023-10-17 | criteria provided, single submitter | Dyskeratosis congenita, autosomal dominant 2 |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.493 | Idiopathic Pulmonary Fibrosis | 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.2594G>A (p.Arg865His) AND Pulmonary fibrosis and/or bone marrow failure, Telomer... | ClinVar | Detail |
NM_198253.3(TERT):c.2594G>A (p.Arg865His) AND Interstitial lung disease 2 | ClinVar | Detail |
NM_198253.3(TERT):c.2594G>A (p.Arg865His) AND not provided | ClinVar | Detail |
NM_198253.3(TERT):c.2594G>A (p.Arg865His) AND Pulmonary fibrosis | ClinVar | Detail |
NM_198253.3(TERT):c.2594G>A (p.Arg865His) AND multiple conditions | ClinVar | Detail |
NM_198253.3(TERT):c.2594G>A (p.Arg865His) AND multiple conditions | ClinVar | Detail |
NM_198253.3(TERT):c.2594G>A (p.Arg865His) AND Dyskeratosis congenita, autosomal dominant 2 | 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
- rs121918666 dbSNP
- Genome
- hg38
- Position
- chr5:1,266,524-1,266,524
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 6130
- 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)
- 78240
- 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)
- 1.278118609406953E-5
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