chr3:48630348:G>A Detail (hg19) (COL7A1)

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

Genome

Assembly	Position
hg19	chr3:48,630,348-48,630,348
hg38	chr3:48,592,915-48,592,915 View the variant detail on this assembly version.

HGVS

COL7A1

Type	Transcript	Protein
RefSeq	NM_000094.3:c.706C>T	NP_000085.1:p.Arg236Ter
Ensemble	ENST00000328333.12:c.706C>T	ENST00000328333.12:p.Arg236Ter
	ENST00000681320.1:c.706C>T	ENST00000681320.1:p.Arg236Ter

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	Pathogenic
Review star
Show details

Links

COL7A1

Type	Database	ID	Link
Gene	MIM	120120	OMIM
	HGNC	2214	HGNC
	Ensembl	ENSG00000114270	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	1994-08-01	no assertion criteria provided	Epidermolysis bullosa dystrophica inversa, autosomal recessive	germline	Detail
Pathogenic	1994-08-01	no assertion criteria provided	recessive dystrophic epidermolysis bullosa	germline	Detail
Pathogenic	2015-05-07	criteria provided, single submitter	microcephaly	unknown	Detail
Pathogenic	2014-04-01	criteria provided, single submitter	epidermolysis bullosa dystrophica	germline	Detail
Pathogenic	2023-07-05	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.458	Hallopeau-Siemens Disease	NA	CLINVAR		Detail
0.120	Epidermolysis bullosa dystrophica inversa, autosomal recessive	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000094.4(COL7A1):c.706C>T (p.Arg236Ter) AND Epidermolysis bullosa dystrophica inversa, autosomal ...	ClinVar	Detail
NM_000094.4(COL7A1):c.706C>T (p.Arg236Ter) AND Recessive dystrophic epidermolysis bullosa	ClinVar	Detail
NM_000094.4(COL7A1):c.706C>T (p.Arg236Ter) AND multiple conditions	ClinVar	Detail
NM_000094.4(COL7A1):c.706C>T (p.Arg236Ter) AND Epidermolysis bullosa dystrophica	ClinVar	Detail
NM_000094.4(COL7A1):c.706C>T (p.Arg236Ter) AND not provided	ClinVar	Detail
NA	DisGeNET	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: rs121912854 dbSNP
Genome: hg19
Position: chr3:48,630,348-48,630,348
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8614
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 119692
Allele Counts in All Race (ExAC): 2
Heterozygous Counts in All Race (ExAC): 2
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.670955452327641E-5

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