chr3:48575392:C>T Detail (hg38) (COL7A1)

Information

Genome

Assembly Position
hg19 chr3:48,612,825-48,612,825 View the variant detail on this assembly version.
hg38 chr3:48,575,392-48,575,392

HGVS

Type Transcript Protein
RefSeq NM_000094.3:c.6127G>A NP_000085.1:p.Gly2043Arg
Ensemble ENST00000328333.12:c.6127G>A ENST00000328333.12:p.Gly2043Arg
ENST00000681320.1:c.6127G>A ENST00000681320.1:p.Gly2043Arg
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

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 2022-03-14 criteria provided, multiple submitters, no conflicts Generalized dominant dystrophic epidermolysis bullosa germline Detail
Pathogenic 2023-06-24 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2019-09-04 criteria provided, single submitter pretibial dystrophic epidermolysis bullosa germline Detail
Pathogenic 2018-10-19 criteria provided, single submitter epidermolysis bullosa dystrophica de novo germline Detail
Pathogenic 2024-02-20 criteria provided, single submitter COL7A1-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.480 Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) NA CLINVAR Detail
0.006 Cockayne-Touraine Disease A recurrent glycine substitution mutation, G2043R, in the type VII collagen gene... BeFree 9892921 Detail
0.006 Cockayne-Touraine Disease Three cases of de novo dominant dystrophic epidermolysis bullosa associated with... BeFree 11260189 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000094.4(COL7A1):c.6127G>A (p.Gly2043Arg) AND Generalized dominant dystrophic epidermolysis bullo... ClinVar Detail
NM_000094.4(COL7A1):c.6127G>A (p.Gly2043Arg) AND not provided ClinVar Detail
NM_000094.4(COL7A1):c.6127G>A (p.Gly2043Arg) AND Pretibial dystrophic epidermolysis bullosa ClinVar Detail
NM_000094.4(COL7A1):c.6127G>A (p.Gly2043Arg) AND Epidermolysis bullosa dystrophica ClinVar Detail
NM_000094.4(COL7A1):c.6127G>A (p.Gly2043Arg) AND COL7A1-related disorder ClinVar Detail
NA DisGeNET Detail
A recurrent glycine substitution mutation, G2043R, in the type VII collagen gene (COL7A1) in dominan... DisGeNET Detail
Three cases of de novo dominant dystrophic epidermolysis bullosa associated with the mutation G2043R... 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
rs121912836 dbSNP
Genome
hg38
Position
chr3:48,575,392-48,575,392
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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