chr8:89982760:GATTTCGGCTGATCGACTGATCATTTTCAAT> Detail (hg38) (NBN)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr8:90,994,988-90,995,018 |
hg38 | chr8:89,982,760-89,982,790 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_002485.4:c.103_133delATTGAAAATGATCAGTCGATCAGCCGAAATC | NP_002476.2:p.Ile35MetfsTer4 |
NM_001024688.2:c.-114_-144delATTGAAAATGATCAGTCGATCAGCCGAAATC | ||
Ensemble | ENST00000265433.8:c.103_133delATTGAAAATGATCAGTCGATCAGCCGAAATC | ENST00000265433.8:p.Ile35MetfsTer4 |
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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2021-11-10 | criteria provided, conflicting interpretations | not provided |
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Detail |
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2023-11-09 | criteria provided, multiple submitters, no conflicts | Microcephaly, normal intelligence and immunodeficiency |
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Detail |
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2020-06-30 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
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Detail |
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2023-02-26 | 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.105_135del (p.Ile35fs) AND not provided | ClinVar | Detail |
NM_002485.5(NBN):c.105_135del (p.Ile35fs) AND Microcephaly, normal intelligence and immunodeficiency | ClinVar | Detail |
NM_002485.5(NBN):c.105_135del (p.Ile35fs) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_002485.5(NBN):c.105_135del (p.Ile35fs) 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
- rs730881840 dbSNP
- Genome
- hg38
- Position
- chr8:89,982,760-89,982,790
- Variant Type
- snv
- Reference Allele
- GATTTCGGCTGATCGACTGATCATTTTCAAT
- Alternative Allele
- -
- 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)
- 121388
- 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)
- 8.238046594391538E-6
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