chr19:40901402:G>A Detail (hg19) (PRX)

Information

Genome

Assembly Position
hg19 chr19:40,901,402-40,901,402
hg38 chr19:40,395,495-40,395,495 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_020956.2:c.*3062C>T
NM_181882.2:c.2857C>T NP_870998.2:p.Arg953Ter
Ensemble ENST00000291825.11:c.*3062C>T
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 Pathogenic
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
Pathogenic 2001-02-01 no assertion criteria provided Autosomal recessive Dejerine-Sottas syndrome germline Detail
Pathogenic 2017-09-01 criteria provided, single submitter Charcot-Marie-Tooth disease type 4F germline Detail
Pathogenic 2019-03-11 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2023-08-23 criteria provided, single submitter Charcot-Marie-Tooth disease type 4 germline Detail
Pathogenic criteria provided, single submitter Charcot-Marie-Tooth disease 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
Annotation

Annotations

DescrptionSourceLinks
NM_181882.3(PRX):c.2857C>T (p.Arg953Ter) AND Autosomal recessive Dejerine-Sottas syndrome ClinVar Detail
NM_181882.3(PRX):c.2857C>T (p.Arg953Ter) AND Charcot-Marie-Tooth disease type 4F ClinVar Detail
NM_181882.3(PRX):c.2857C>T (p.Arg953Ter) AND not provided ClinVar Detail
NM_181882.3(PRX):c.2857C>T (p.Arg953Ter) AND Charcot-Marie-Tooth disease type 4 ClinVar Detail
NM_181882.3(PRX):c.2857C>T (p.Arg953Ter) AND Charcot-Marie-Tooth disease 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
rs104894714 dbSNP
Genome
hg19
Position
chr19:40,901,402-40,901,402
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8650
East Asian Allele Counts (ExAC)
2
East Asian Heterozygous Counts (ExAC)
2
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
2.3121387283236994E-4
Chromosome Counts in All Race (ExAC)
121374
Allele Counts in All Race (ExAC)
5
Heterozygous Counts in All Race (ExAC)
5
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
4.119498409873614E-5
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