chr3:48612861:C>T Detail (hg19) (COL7A1)

Information

Genome

Assembly Position
hg19 chr3:48,612,861-48,612,861
hg38 chr3:48,575,428-48,575,428 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000094.3:c.6091G>A NP_000085.1:p.Gly2031Ser
Ensemble ENST00000328333.12:c.6091G>A ENST00000328333.12:p.Gly2031Ser
ENST00000681320.1:c.6091G>A ENST00000681320.1:p.Gly2031Ser
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 Conflicting classifications of pathogenicity
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 criteria provided, single submitter recessive dystrophic epidermolysis bullosa germline unknown Detail
Pathogenic 2023-11-17 criteria provided, multiple submitters, no conflicts not provided germline Detail
Uncertain significance 2012-09-20 criteria provided, single submitter pretibial dystrophic epidermolysis bullosa,Epidermolysis bullosa pruriginosa,transient bullous dermolysis of the newborn,Dominant dystrophic epidermolysis bullosa with absence of skin,nonsyndromic congenital nail disorder 8,Generalized dominant dystrophic epidermolysis bullosa,recessive dystrophic epidermolysis bullosa germline Detail
Uncertain significance 2012-09-20 criteria provided, single submitter pretibial dystrophic epidermolysis bullosa,Epidermolysis bullosa pruriginosa,transient bullous dermolysis of the newborn,Dominant dystrophic epidermolysis bullosa with absence of skin,nonsyndromic congenital nail disorder 8,Generalized dominant dystrophic epidermolysis bullosa,recessive dystrophic epidermolysis bullosa germline Detail
Uncertain significance 2012-09-20 criteria provided, single submitter pretibial dystrophic epidermolysis bullosa,Epidermolysis bullosa pruriginosa,transient bullous dermolysis of the newborn,Dominant dystrophic epidermolysis bullosa with absence of skin,nonsyndromic congenital nail disorder 8,Generalized dominant dystrophic epidermolysis bullosa,recessive dystrophic epidermolysis bullosa germline Detail
Uncertain significance 2012-09-20 criteria provided, single submitter pretibial dystrophic epidermolysis bullosa,Epidermolysis bullosa pruriginosa,transient bullous dermolysis of the newborn,Dominant dystrophic epidermolysis bullosa with absence of skin,nonsyndromic congenital nail disorder 8,Generalized dominant dystrophic epidermolysis bullosa,recessive dystrophic epidermolysis bullosa germline Detail
Uncertain significance 2012-09-20 criteria provided, single submitter pretibial dystrophic epidermolysis bullosa,Epidermolysis bullosa pruriginosa,transient bullous dermolysis of the newborn,Dominant dystrophic epidermolysis bullosa with absence of skin,nonsyndromic congenital nail disorder 8,Generalized dominant dystrophic epidermolysis bullosa,recessive dystrophic epidermolysis bullosa germline Detail
Uncertain significance 2012-09-20 criteria provided, single submitter pretibial dystrophic epidermolysis bullosa,Epidermolysis bullosa pruriginosa,transient bullous dermolysis of the newborn,Dominant dystrophic epidermolysis bullosa with absence of skin,nonsyndromic congenital nail disorder 8,Generalized dominant dystrophic epidermolysis bullosa,recessive dystrophic epidermolysis bullosa germline Detail
Uncertain significance 2012-09-20 criteria provided, single submitter pretibial dystrophic epidermolysis bullosa,Epidermolysis bullosa pruriginosa,transient bullous dermolysis of the newborn,Dominant dystrophic epidermolysis bullosa with absence of skin,nonsyndromic congenital nail disorder 8,Generalized dominant dystrophic epidermolysis bullosa,recessive dystrophic epidermolysis bullosa germline Detail
Pathogenic 2020-07-10 no assertion criteria provided epidermolysis bullosa dystrophica germline Detail
Uncertain significance 2024-02-26 criteria provided, single submitter Duane retraction syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.458 Hallopeau-Siemens Disease NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000094.4(COL7A1):c.6091G>A (p.Gly2031Ser) AND Recessive dystrophic epidermolysis bullosa ClinVar Detail
NM_000094.4(COL7A1):c.6091G>A (p.Gly2031Ser) AND not provided ClinVar Detail
NM_000094.4(COL7A1):c.6091G>A (p.Gly2031Ser) AND multiple conditions ClinVar Detail
NM_000094.4(COL7A1):c.6091G>A (p.Gly2031Ser) AND multiple conditions ClinVar Detail
NM_000094.4(COL7A1):c.6091G>A (p.Gly2031Ser) AND multiple conditions ClinVar Detail
NM_000094.4(COL7A1):c.6091G>A (p.Gly2031Ser) AND multiple conditions ClinVar Detail
NM_000094.4(COL7A1):c.6091G>A (p.Gly2031Ser) AND multiple conditions ClinVar Detail
NM_000094.4(COL7A1):c.6091G>A (p.Gly2031Ser) AND multiple conditions ClinVar Detail
NM_000094.4(COL7A1):c.6091G>A (p.Gly2031Ser) AND multiple conditions ClinVar Detail
NM_000094.4(COL7A1):c.6091G>A (p.Gly2031Ser) AND Epidermolysis bullosa dystrophica ClinVar Detail
NM_000094.4(COL7A1):c.6091G>A (p.Gly2031Ser) AND Duane retraction syndrome 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
rs121912838 dbSNP
Genome
hg19
Position
chr3:48,612,861-48,612,861
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
7926
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)
108462
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)
9.219818922756356E-6
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