chr6:7542157:C>T Detail (hg19) (DSP, DSP-AS1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr6:7,542,157-7,542,157 |
hg38 | chr6:7,541,924-7,541,924 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_004415.3:c.9C>T | NP_004406.2:p.Cys3= |
NM_001008844.2:c.9C>T | NP_001008844.1:p.Cys3= | |
NM_001319034.1:c.9C>T | NP_001305963.1:p.Cys3= |
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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2018-01-12 | criteria provided, single submitter | Woolly hair-skin fragility syndrome |
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Detail |
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2018-01-12 | criteria provided, single submitter | Lethal acantholytic epidermolysis bullosa |
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Detail |
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2018-01-12 | criteria provided, single submitter | arrhythmogenic right ventricular dysplasia 8 |
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Detail |
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2016-06-08 | criteria provided, single submitter |
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Detail | |
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2023-11-08 | criteria provided, single submitter | arrhythmogenic right ventricular dysplasia 8,Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
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Detail |
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2023-11-08 | criteria provided, single submitter | arrhythmogenic right ventricular dysplasia 8,Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
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Detail |
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2023-07-22 | criteria provided, single submitter | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
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Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_004415.4(DSP):c.9C>T (p.Cys3=) AND Woolly hair-skin fragility syndrome | ClinVar | Detail |
NM_004415.4(DSP):c.9C>T (p.Cys3=) AND Lethal acantholytic epidermolysis bullosa | ClinVar | Detail |
NM_004415.4(DSP):c.9C>T (p.Cys3=) AND Arrhythmogenic right ventricular dysplasia 8 | ClinVar | Detail |
NM_004415.4(DSP):c.9C>T (p.Cys3=) AND Cardiovascular phenotype | ClinVar | Detail |
NM_004415.4(DSP):c.9C>T (p.Cys3=) AND multiple conditions | ClinVar | Detail |
NM_004415.4(DSP):c.9C>T (p.Cys3=) AND multiple conditions | ClinVar | Detail |
NM_004415.4(DSP):c.9C>T (p.Cys3=) AND Arrhythmogenic cardiomyopathy with wooly hair and keratoderma | ClinVar | 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
- rs769032973 dbSNP
- Genome
- hg19
- Position
- chr6:7,542,157-7,542,157
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 6768
- 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)
- 84228
- 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)
- 1.1872536448686898E-5
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