chr19:40903673:G>T Detail (hg19) (PRX)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr19:40,903,673-40,903,673 |
hg38 | chr19:40,397,766-40,397,766 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_020956.2:c.*791C>A | |
NM_181882.2:c.586C>A | NP_870998.2:p.Arg196= | |
Ensemble | ENST00000291825.11:c.*791C>A |
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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2024-01-22 | 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 | |
0.242 | Dejerine-Sottas Disease (disorder) | NA | CLINVAR | Detail | |
0.009 | Charcot-Marie-Tooth disease | After characterizing the human PRX gene, we identified a nonsense R196X mutation... | BeFree | 11157804 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_181882.3(PRX):c.586C>A (p.Arg196=) AND Charcot-Marie-Tooth disease type 4 | ClinVar | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
After characterizing the human PRX gene, we identified a nonsense R196X mutation in the Lebanese fam... | 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
- -
- Genome
- hg19
- Position
- chr19:40,903,673-40,903,673
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
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