chr3:48593538:T>C Detail (hg38) (COL7A1)

Information

Genome

Assembly Position
hg19 chr3:48,630,971-48,630,971 View the variant detail on this assembly version.
hg38 chr3:48,593,538-48,593,538

HGVS

Type Transcript Protein
RefSeq NM_000094.3:c.425A>G NP_000085.1:p.Lys142Arg
Ensemble ENST00000328333.12:c.425A>G ENST00000328333.12:p.Lys142Arg
ENST00000681320.1:c.425A>G ENST00000681320.1:p.Lys142Arg
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
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 2006-10-01 no assertion criteria provided Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant germline Detail
Pathogenic 2006-10-01 no assertion criteria provided Epidermolysis bullosa pruriginosa, autosomal recessive germline Detail
Pathogenic 2020-09-16 no assertion criteria provided Epidermolysis bullosa dystrophica inversa, autosomal recessive germline Detail
Pathogenic 2023-12-19 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2017-01-01 criteria provided, single submitter unknown Detail
Pathogenic 2017-01-01 criteria provided, single submitter Anonychia unknown Detail
Pathogenic 2022-03-14 criteria provided, multiple submitters, no conflicts recessive dystrophic epidermolysis bullosa germline Detail
Pathogenic 2021-08-03 criteria provided, single submitter nonsyndromic congenital nail disorder 8,Generalized dominant dystrophic epidermolysis bullosa,recessive dystrophic epidermolysis bullosa,Dominant dystrophic epidermolysis bullosa with absence of skin,pretibial dystrophic epidermolysis bullosa,transient bullous dermolysis of the newborn,Epidermolysis bullosa pruriginosa unknown Detail
Pathogenic 2021-08-03 criteria provided, single submitter nonsyndromic congenital nail disorder 8,Generalized dominant dystrophic epidermolysis bullosa,recessive dystrophic epidermolysis bullosa,Dominant dystrophic epidermolysis bullosa with absence of skin,pretibial dystrophic epidermolysis bullosa,transient bullous dermolysis of the newborn,Epidermolysis bullosa pruriginosa unknown Detail
Pathogenic 2021-08-03 criteria provided, single submitter nonsyndromic congenital nail disorder 8,Generalized dominant dystrophic epidermolysis bullosa,recessive dystrophic epidermolysis bullosa,Dominant dystrophic epidermolysis bullosa with absence of skin,pretibial dystrophic epidermolysis bullosa,transient bullous dermolysis of the newborn,Epidermolysis bullosa pruriginosa unknown Detail
Pathogenic 2021-08-03 criteria provided, single submitter nonsyndromic congenital nail disorder 8,Generalized dominant dystrophic epidermolysis bullosa,recessive dystrophic epidermolysis bullosa,Dominant dystrophic epidermolysis bullosa with absence of skin,pretibial dystrophic epidermolysis bullosa,transient bullous dermolysis of the newborn,Epidermolysis bullosa pruriginosa unknown Detail
Pathogenic 2021-08-03 criteria provided, single submitter nonsyndromic congenital nail disorder 8,Generalized dominant dystrophic epidermolysis bullosa,recessive dystrophic epidermolysis bullosa,Dominant dystrophic epidermolysis bullosa with absence of skin,pretibial dystrophic epidermolysis bullosa,transient bullous dermolysis of the newborn,Epidermolysis bullosa pruriginosa unknown Detail
Pathogenic 2021-08-03 criteria provided, single submitter nonsyndromic congenital nail disorder 8,Generalized dominant dystrophic epidermolysis bullosa,recessive dystrophic epidermolysis bullosa,Dominant dystrophic epidermolysis bullosa with absence of skin,pretibial dystrophic epidermolysis bullosa,transient bullous dermolysis of the newborn,Epidermolysis bullosa pruriginosa unknown Detail
Pathogenic 2021-08-03 criteria provided, single submitter nonsyndromic congenital nail disorder 8,Generalized dominant dystrophic epidermolysis bullosa,recessive dystrophic epidermolysis bullosa,Dominant dystrophic epidermolysis bullosa with absence of skin,pretibial dystrophic epidermolysis bullosa,transient bullous dermolysis of the newborn,Epidermolysis bullosa pruriginosa unknown Detail
Pathogenic 2023-03-30 criteria provided, multiple submitters, no conflicts epidermolysis bullosa dystrophica germline Detail
Pathogenic 2019-02-26 criteria provided, single submitter Epidermolysis bullosa pruriginosa unknown 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.425A>G (p.Lys142Arg) AND Epidermolysis bullosa dystrophica, autosomal recessiv... ClinVar Detail
NM_000094.4(COL7A1):c.425A>G (p.Lys142Arg) AND Epidermolysis bullosa pruriginosa, autosomal recessiv... ClinVar Detail
NM_000094.4(COL7A1):c.425A>G (p.Lys142Arg) AND Epidermolysis bullosa dystrophica inversa, autosomal ... ClinVar Detail
NM_000094.4(COL7A1):c.425A>G (p.Lys142Arg) AND not provided ClinVar Detail
NM_000094.4(COL7A1):c.425A>G (p.Lys142Arg) AND multiple conditions ClinVar Detail
NM_000094.4(COL7A1):c.425A>G (p.Lys142Arg) AND Anonychia ClinVar Detail
NM_000094.4(COL7A1):c.425A>G (p.Lys142Arg) AND Recessive dystrophic epidermolysis bullosa ClinVar Detail
NM_000094.4(COL7A1):c.425A>G (p.Lys142Arg) AND multiple conditions ClinVar Detail
NM_000094.4(COL7A1):c.425A>G (p.Lys142Arg) AND multiple conditions ClinVar Detail
NM_000094.4(COL7A1):c.425A>G (p.Lys142Arg) AND multiple conditions ClinVar Detail
NM_000094.4(COL7A1):c.425A>G (p.Lys142Arg) AND multiple conditions ClinVar Detail
NM_000094.4(COL7A1):c.425A>G (p.Lys142Arg) AND multiple conditions ClinVar Detail
NM_000094.4(COL7A1):c.425A>G (p.Lys142Arg) AND multiple conditions ClinVar Detail
NM_000094.4(COL7A1):c.425A>G (p.Lys142Arg) AND multiple conditions ClinVar Detail
NM_000094.4(COL7A1):c.425A>G (p.Lys142Arg) AND Epidermolysis bullosa dystrophica ClinVar Detail
NM_000094.4(COL7A1):c.425A>G (p.Lys142Arg) AND Epidermolysis bullosa pruriginosa 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
rs121912856 dbSNP
Genome
hg38
Position
chr3:48,593,538-48,593,538
Variant Type
snv
Reference Allele
T
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
8652
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)
121368
Allele Counts in All Race (ExAC)
5
Heterozygous Counts in All Race (ExAC)
5
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
4.1197020631467934E-5
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