chr8:143934923:G>A Detail (hg38) (PLEC)

Information

Genome

Assembly Position
hg19 chr8:145,009,091-145,009,091 View the variant detail on this assembly version.
hg38 chr8:143,934,923-143,934,923

HGVS

Type Transcript Protein
RefSeq NM_201380.3:c.1243C>T NP_958782.1:p.Gln415Ter
NM_201384.2:c.832C>T NP_958786.1:p.Gln278Ter
NM_201382.3:c.832C>T NP_958784.1:p.Gln278Ter
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 601282 OMIM
HGNC 9069 HGNC
Ensembl ENSG00000178209 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 2005-02-01 no assertion criteria provided Epidermolysis bullosa simplex 5C, with pyloric atresia germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.361 Epidermolysis Bullosa Simplex With Pyloric Atresia NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_201384.3(PLEC):c.832C>T (p.Gln278Ter) AND Epidermolysis bullosa simplex 5C, with pyloric atresia 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
rs137853160 dbSNP
Genome
hg38
Position
chr8:143,934,923-143,934,923
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser