chr8:143920817:G>C Detail (hg38) (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 View the variant detail on this assembly version.
hg38	chr8:143,920,817-143,920,817

HGVS

PLEC

Type	Transcript	Protein
RefSeq	NM_201380.3:c.9415C>G	NP_958782.1:p.Arg3139Gly
	NM_201384.2:c.9004C>G	NP_958786.1:p.Arg3002Gly
	NM_201382.3:c.9004C>G	NP_958784.1:p.Arg3002Gly
	NM_201379.2:c.8938C>G	NP_958781.1:p.Arg2980Gly
	NM_201378.3:c.8962C>G	NP_958780.1:p.Arg2988Gly
	NM_201383.2:c.9016C>G	NP_958785.1:p.Arg3006Gly
	NM_201381.2:c.8908C>G	NP_958783.1:p.Arg2970Gly
	NM_000445.4:c.9085C>G	NP_000436.2:p.Arg3029Gly
Ensemble	ENST00000322810.8:c.9415C>G	ENST00000322810.8:p.Arg3139Gly
	ENST00000345136.8:c.9004C>G	ENST00000345136.8:p.Arg3002Gly
	ENST00000354589.7:c.9004C>G	ENST00000354589.7:p.Arg3002Gly
	ENST00000354958.6:c.8938C>G	ENST00000354958.6:p.Arg2980Gly
	ENST00000356346.7:c.8962C>G	ENST00000356346.7:p.Arg2988Gly
	ENST00000357649.6:c.9016C>G	ENST00000357649.6:p.Arg3006Gly
	ENST00000398774.6:c.8908C>G	ENST00000398774.6:p.Arg2970Gly
	ENST00000436759.6:c.9085C>G	ENST00000436759.6:p.Arg3029Gly
	ENST00000527096.5:c.9073C>G	ENST00000527096.5:p.Arg3025Gly
	ENST00000527303.2:c.5704C>G	ENST00000527303.2:p.Arg1902Gly
	ENST00000528025.6:c.9136C>G	ENST00000528025.6:p.Arg3046Gly
	ENST00000685198.1:c.9055C>G	ENST00000685198.1:p.Arg3019Gly
	ENST00000687971.1:c.8722C>G	ENST00000687971.1:p.Arg2908Gly
	ENST00000693060.1:c.8935C>G	ENST00000693060.1:p.Arg2979Gly

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
Review star	[No Data.]
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

[No Data.]

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
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: -
Genome: hg38
Position: chr8:143,920,817-143,920,817
Variant Type: snv
Reference Allele: G
Alternative Allele: C
East Asian Chromosome Counts (ExAC): 8382
East Asian Allele Counts (ExAC): 1
East Asian Heterozygous Counts (ExAC): 1
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 1.1930326890956812E-4
Chromosome Counts in All Race (ExAC): 113840
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.784258608573437E-6

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