chr19:40396064:A> Detail (hg38) (PRX)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr19:40,901,971-40,901,971 |
hg38 | chr19:40,396,064-40,396,064 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_020956.2:c.*2493delT | |
NM_181882.2:c.2288delT | NP_870998.2:p.Asp765ThrfsTer10 | |
Ensemble | ENST00000291825.11:c.*2493delT |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
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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2001-02-01 | no assertion criteria provided | Autosomal recessive Dejerine-Sottas syndrome |
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Detail |
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2014-08-06 | criteria provided, single submitter | Charcot-Marie-Tooth disease type 4F |
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Detail |
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2022-06-23 | criteria provided, single submitter | Charcot-Marie-Tooth disease type 4 |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.360 | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_181882.3(PRX):c.2289del (p.Asp765fs) AND Autosomal recessive Dejerine-Sottas syndrome | ClinVar | Detail |
NM_181882.3(PRX):c.2289del (p.Asp765fs) AND Charcot-Marie-Tooth disease type 4F | ClinVar | Detail |
NM_181882.3(PRX):c.2289del (p.Asp765fs) AND Charcot-Marie-Tooth disease type 4 | 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
- rs797045102 dbSNP
- Genome
- hg38
- Position
- chr19:40,396,064-40,396,064
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- -
Genome browser