chr8:89943297:G>A Detail (hg38) (NBN)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr8:90,955,525-90,955,525 View the variant detail on this assembly version. |
hg38 | chr8:89,943,297-89,943,297 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_002485.4:c.2140C>T | NP_002476.2:p.Arg714Ter |
NM_001024688.2:c.1894C>T | NP_001019859.1:p.Arg632Ter | |
Ensemble | ENST00000265433.8:c.2140C>T | ENST00000265433.8:p.Arg714Ter |
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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2023-06-06 | criteria provided, single submitter | not provided |
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Detail |
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2023-12-06 | criteria provided, multiple submitters, no conflicts | Microcephaly, normal intelligence and immunodeficiency |
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Detail |
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2022-05-06 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
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Detail |
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2021-08-19 | criteria provided, single submitter | aplastic anemia,Acute lymphoid leukemia,Microcephaly, normal intelligence and immunodeficiency |
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Detail |
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2021-08-19 | criteria provided, single submitter | aplastic anemia,Acute lymphoid leukemia,Microcephaly, normal intelligence and immunodeficiency |
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Detail |
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2021-08-19 | criteria provided, single submitter | aplastic anemia,Acute lymphoid leukemia,Microcephaly, normal intelligence and immunodeficiency |
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Detail |
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2023-10-12 | criteria provided, single submitter | aplastic anemia |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.120 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter) AND not provided | ClinVar | Detail |
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter) AND Microcephaly, normal intelligence and immunodeficiency | ClinVar | Detail |
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter) AND multiple conditions | ClinVar | Detail |
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter) AND multiple conditions | ClinVar | Detail |
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter) AND multiple conditions | ClinVar | Detail |
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter) AND Aplastic anemia | ClinVar | 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
- rs730881864 dbSNP
- Genome
- hg38
- Position
- chr8:89,943,297-89,943,297
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- 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)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.237775141689733E-6
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