chr19:40396255:C> Detail (hg38) (PRX)

Information

Genome

Assembly Position
hg19 chr19:40,902,162-40,902,162 
hg38 chr19:40,396,255-40,396,255

HGVS

Type Transcript Protein
RefSeq NM_020956.2:c.*2302delG
NM_181882.2:c.2097delG NP_870998.2:p.Ala700ProfsTer18
Ensemble ENST00000291825.11:c.*2302delG
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Uncertain significance
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
not provided no assertion provided Charcot-Marie-Tooth disease type 4F germline Detail
Uncertain significance no assertion criteria provided 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.2098del (p.Ala700fs) AND Charcot-Marie-Tooth disease type 4F ClinVar Detail
NM_181882.3(PRX):c.2098del (p.Ala700fs) 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
rs281865062 dbSNP
Genome
hg38
Position
chr19:40,396,255-40,396,255
Variant Type
snv
Reference Allele
C
Alternative Allele
-
Genome browser