chr19:40397766:G>T Detail (hg38) (PRX)

Information

Genome

Assembly Position
hg19 chr19:40,903,673-40,903,673 View the variant detail on this assembly version.
hg38 chr19:40,397,766-40,397,766

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 Likely benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 605725 OMIM
HGNC 13797 HGNC
Ensembl ENSG00000105227 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely benign 2024-01-22 criteria provided, single submitter Charcot-Marie-Tooth disease type 4 germline 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

DescrptionSourceLinks
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
hg38
Position
chr19:40,397,766-40,397,766
Variant Type
snv
Reference Allele
G
Alternative Allele
T
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