chr3:48575218:G>A Detail (hg38) (COL7A1)

Information

Genome

Assembly Position
hg19 chr3:48,612,651-48,612,651 View the variant detail on this assembly version.
hg38 chr3:48,575,218-48,575,218

HGVS

Type Transcript Protein
RefSeq NM_000094.3:c.6205C>T NP_000085.1:p.Arg2069Cys
Ensemble ENST00000328333.12:c.6205C>T ENST00000328333.12:p.Arg2069Cys
ENST00000681320.1:c.6205C>T ENST00000681320.1:p.Arg2069Cys
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 Likely pathogenic
Review star
Show details
Links
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 tgv191738709 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2020-09-16 no assertion criteria provided Epidermolysis bullosa dystrophica inversa, autosomal recessive germline Detail
Pathogenic 2015-05-07 criteria provided, single submitter microcephaly unknown Detail
Pathogenic 2023-11-18 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2017-01-01 criteria provided, single submitter unknown Detail
Pathogenic 2016-01-01 criteria provided, single submitter Epidermolysis bullosa pruriginosa unknown Detail
Pathogenic criteria provided, single submitter Generalized dominant dystrophic epidermolysis bullosa germline Detail
Pathogenic 2016-01-07 criteria provided, single submitter epidermolysis bullosa dystrophica germline Detail
Pathogenic 2022-03-14 criteria provided, multiple submitters, no conflicts recessive dystrophic epidermolysis bullosa germline paternal Detail
Likely pathogenic 2021-11-11 criteria provided, single submitter Dominant dystrophic epidermolysis bullosa with absence of skin,transient bullous dermolysis of the newborn,recessive dystrophic epidermolysis bullosa,Generalized dominant dystrophic epidermolysis bullosa,Epidermolysis bullosa pruriginosa,nonsyndromic congenital nail disorder 8,pretibial dystrophic epidermolysis bullosa unknown Detail
Likely pathogenic 2021-11-11 criteria provided, single submitter Dominant dystrophic epidermolysis bullosa with absence of skin,transient bullous dermolysis of the newborn,recessive dystrophic epidermolysis bullosa,Generalized dominant dystrophic epidermolysis bullosa,Epidermolysis bullosa pruriginosa,nonsyndromic congenital nail disorder 8,pretibial dystrophic epidermolysis bullosa unknown Detail
Likely pathogenic 2021-11-11 criteria provided, single submitter Dominant dystrophic epidermolysis bullosa with absence of skin,transient bullous dermolysis of the newborn,recessive dystrophic epidermolysis bullosa,Generalized dominant dystrophic epidermolysis bullosa,Epidermolysis bullosa pruriginosa,nonsyndromic congenital nail disorder 8,pretibial dystrophic epidermolysis bullosa unknown Detail
Likely pathogenic 2021-11-11 criteria provided, single submitter Dominant dystrophic epidermolysis bullosa with absence of skin,transient bullous dermolysis of the newborn,recessive dystrophic epidermolysis bullosa,Generalized dominant dystrophic epidermolysis bullosa,Epidermolysis bullosa pruriginosa,nonsyndromic congenital nail disorder 8,pretibial dystrophic epidermolysis bullosa unknown Detail
Likely pathogenic 2021-11-11 criteria provided, single submitter Dominant dystrophic epidermolysis bullosa with absence of skin,transient bullous dermolysis of the newborn,recessive dystrophic epidermolysis bullosa,Generalized dominant dystrophic epidermolysis bullosa,Epidermolysis bullosa pruriginosa,nonsyndromic congenital nail disorder 8,pretibial dystrophic epidermolysis bullosa unknown Detail
Likely pathogenic 2021-11-11 criteria provided, single submitter Dominant dystrophic epidermolysis bullosa with absence of skin,transient bullous dermolysis of the newborn,recessive dystrophic epidermolysis bullosa,Generalized dominant dystrophic epidermolysis bullosa,Epidermolysis bullosa pruriginosa,nonsyndromic congenital nail disorder 8,pretibial dystrophic epidermolysis bullosa unknown Detail
Likely pathogenic 2021-11-11 criteria provided, single submitter Dominant dystrophic epidermolysis bullosa with absence of skin,transient bullous dermolysis of the newborn,recessive dystrophic epidermolysis bullosa,Generalized dominant dystrophic epidermolysis bullosa,Epidermolysis bullosa pruriginosa,nonsyndromic congenital nail disorder 8,pretibial dystrophic epidermolysis bullosa unknown Detail
Pathogenic 2023-11-21 criteria provided, single submitter COL7A1-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 Epidermolysis bullosa dystrophica inversa, autosomal recessive NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys) AND Epidermolysis bullosa dystrophica inversa, autosoma... ClinVar Detail
NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys) AND multiple conditions ClinVar Detail
NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys) AND not provided ClinVar Detail
NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys) AND Abnormal blistering of the skin ClinVar Detail
NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys) AND Epidermolysis bullosa pruriginosa ClinVar Detail
NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys) AND Generalized dominant dystrophic epidermolysis bullo... ClinVar Detail
NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys) AND Epidermolysis bullosa dystrophica ClinVar Detail
NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys) AND Recessive dystrophic epidermolysis bullosa ClinVar Detail
NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys) AND multiple conditions ClinVar Detail
NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys) AND multiple conditions ClinVar Detail
NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys) AND multiple conditions ClinVar Detail
NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys) AND multiple conditions ClinVar Detail
NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys) AND multiple conditions ClinVar Detail
NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys) AND multiple conditions ClinVar Detail
NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys) AND multiple conditions ClinVar Detail
NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys) AND COL7A1-related disorder 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
rs121912855 dbSNP
Genome
hg38
Position
chr3:48,575,218-48,575,218
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
East Asian Chromosome Counts (ExAC)
8642
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)
121056
Allele Frequency in All Race (ExAC)
1.6521279407877345E-5
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