chr8:144994985:G>A Detail (hg19) (PLEC)

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

Genome

Assembly	Position
hg19	chr8:144,994,985-144,994,985
hg38	chr8:143,920,817-143,920,817 View the variant detail on this assembly version.

HGVS

PLEC

Type	Transcript	Protein
RefSeq	NM_201380.3:c.9415C>T	NP_958782.1:p.Arg3139Ter
	NM_201384.2:c.9004C>T	NP_958786.1:p.Arg3002Ter
	NM_201382.3:c.9004C>T	NP_958784.1:p.Arg3002Ter
	NM_201379.2:c.8938C>T	NP_958781.1:p.Arg2980Ter
	NM_201378.3:c.8962C>T	NP_958780.1:p.Arg2988Ter
	NM_201383.2:c.9016C>T	NP_958785.1:p.Arg3006Ter
	NM_201381.2:c.8908C>T	NP_958783.1:p.Arg2970Ter
	NM_000445.4:c.9085C>T	NP_000436.2:p.Arg3029Ter
Ensemble	ENST00000322810.8:c.9415C>T	ENST00000322810.8:p.Arg3139Ter
	ENST00000345136.8:c.9004C>T	ENST00000345136.8:p.Arg3002Ter
	ENST00000354589.7:c.9004C>T	ENST00000354589.7:p.Arg3002Ter
	ENST00000354958.6:c.8938C>T	ENST00000354958.6:p.Arg2980Ter
	ENST00000356346.7:c.8962C>T	ENST00000356346.7:p.Arg2988Ter
	ENST00000357649.6:c.9016C>T	ENST00000357649.6:p.Arg3006Ter
	ENST00000527096.5:c.9073C>T	ENST00000527096.5:p.Arg3025Ter
	ENST00000527303.2:c.5704C>T	ENST00000527303.2:p.Arg1902Ter
	ENST00000398774.6:c.8908C>T	ENST00000398774.6:p.Arg2970Ter
	ENST00000436759.6:c.9085C>T	ENST00000436759.6:p.Arg3029Ter
	ENST00000528025.6:c.9136C>T	ENST00000528025.6:p.Arg3046Ter
	ENST00000685198.1:c.9055C>T	ENST00000685198.1:p.Arg3019Ter
	ENST00000687971.1:c.8722C>T	ENST00000687971.1:p.Arg2908Ter
	ENST00000693060.1:c.8935C>T	ENST00000693060.1:p.Arg2979Ter

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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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	COSM4781892	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2005-01-01	no assertion criteria provided	Epidermolysis bullosa simplex 5C, with pyloric atresia	germline	Detail
Pathogenic	2020-11-03	criteria provided, single submitter	Epidermolysis bullosa simplex 5B, with muscular dystrophy,Epidermolysis bullosa simplex, Ogna type,Epidermolysis bullosa simplex 5C, with pyloric atresia,autosomal recessive limb-girdle muscular dystrophy type 2Q,Epidermolysis bullosa simplex with nail dystrophy	germline	Detail
Pathogenic	2020-11-03	criteria provided, single submitter	Epidermolysis bullosa simplex 5B, with muscular dystrophy,Epidermolysis bullosa simplex, Ogna type,Epidermolysis bullosa simplex 5C, with pyloric atresia,autosomal recessive limb-girdle muscular dystrophy type 2Q,Epidermolysis bullosa simplex with nail dystrophy	germline	Detail
Pathogenic	2020-11-03	criteria provided, single submitter	Epidermolysis bullosa simplex 5B, with muscular dystrophy,Epidermolysis bullosa simplex, Ogna type,Epidermolysis bullosa simplex 5C, with pyloric atresia,autosomal recessive limb-girdle muscular dystrophy type 2Q,Epidermolysis bullosa simplex with nail dystrophy	germline	Detail
Pathogenic	2020-11-03	criteria provided, single submitter	Epidermolysis bullosa simplex 5B, with muscular dystrophy,Epidermolysis bullosa simplex, Ogna type,Epidermolysis bullosa simplex 5C, with pyloric atresia,autosomal recessive limb-girdle muscular dystrophy type 2Q,Epidermolysis bullosa simplex with nail dystrophy	germline	Detail
Pathogenic	2020-11-03	criteria provided, single submitter	Epidermolysis bullosa simplex 5B, with muscular dystrophy,Epidermolysis bullosa simplex, Ogna type,Epidermolysis bullosa simplex 5C, with pyloric atresia,autosomal recessive limb-girdle muscular dystrophy type 2Q,Epidermolysis bullosa simplex with nail dystrophy	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.9004C>T (p.Arg3002Ter) AND Epidermolysis bullosa simplex 5C, with pyloric atresi...	ClinVar	Detail
NM_201384.3(PLEC):c.9004C>T (p.Arg3002Ter) AND multiple conditions	ClinVar	Detail
NM_201384.3(PLEC):c.9004C>T (p.Arg3002Ter) AND multiple conditions	ClinVar	Detail
NM_201384.3(PLEC):c.9004C>T (p.Arg3002Ter) AND multiple conditions	ClinVar	Detail
NM_201384.3(PLEC):c.9004C>T (p.Arg3002Ter) AND multiple conditions	ClinVar	Detail
NM_201384.3(PLEC):c.9004C>T (p.Arg3002Ter) AND multiple conditions	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: rs137853161 dbSNP
Genome: hg19
Position: chr8:144,994,985-144,994,985
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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