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

Go to:

Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

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

PLEC

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
	NM_201379.2:c.766C>T	NP_958781.1:p.Gln256Ter
	NM_201378.3:c.790C>T	NP_958780.1:p.Gln264Ter
	NM_201383.2:c.844C>T	NP_958785.1:p.Gln282Ter
	NM_201381.2:c.736C>T	NP_958783.1:p.Gln246Ter
	NM_000445.4:c.913C>T	NP_000436.2:p.Gln305Ter
Ensemble	ENST00000322810.8:c.1243C>T	ENST00000322810.8:p.Gln415Ter
	ENST00000345136.8:c.832C>T	ENST00000345136.8:p.Gln278Ter
	ENST00000354589.7:c.832C>T	ENST00000354589.7:p.Gln278Ter
	ENST00000354958.6:c.766C>T	ENST00000354958.6:p.Gln256Ter
	ENST00000356346.7:c.790C>T	ENST00000356346.7:p.Gln264Ter
	ENST00000357649.6:c.844C>T	ENST00000357649.6:p.Gln282Ter
	ENST00000398774.6:c.736C>T	ENST00000398774.6:p.Gln246Ter
	ENST00000436759.6:c.913C>T	ENST00000436759.6:p.Gln305Ter
	ENST00000527096.5:c.901C>T	ENST00000527096.5:p.Gln301Ter
	ENST00000527303.2:c.913C>T	ENST00000527303.2:p.Gln305Ter
	ENST00000528025.6:c.964C>T	ENST00000528025.6:p.Gln322Ter
	ENST00000685198.1:c.883C>T	ENST00000685198.1:p.Gln295Ter
	ENST00000687971.1:c.550C>T	ENST00000687971.1:p.Gln184Ter
	ENST00000693060.1:c.763C>T	ENST00000693060.1:p.Gln255Ter

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

PLEC

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

Descrption	Source	Links
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