chr3:48567736:C>T Detail (hg38) (COL7A1)

Information

Genome

Assembly Position
hg19 chr3:48,605,169-48,605,169 View the variant detail on this assembly version.
hg38 chr3:48,567,736-48,567,736

HGVS

Type Transcript Protein
RefSeq NM_000094.3:c.7957G>A NP_000085.1:p.Gly2653Arg
Ensemble ENST00000328333.12:c.7957G>A ENST00000328333.12:p.Gly2653Arg
ENST00000681320.1:c.7957G>A ENST00000681320.1:p.Gly2653Arg
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 tgv191738488 TogoVar
COSMIC COSM5484627 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, single submitter recessive dystrophic epidermolysis bullosa germline Detail
Pathogenic 2023-11-27 criteria provided, multiple submitters, no conflicts not provided germline Detail
Likely pathogenic 2020-08-31 no assertion criteria provided epidermolysis bullosa dystrophica 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.7957G>A (p.Gly2653Arg) AND Recessive dystrophic epidermolysis bullosa ClinVar Detail
NM_000094.4(COL7A1):c.7957G>A (p.Gly2653Arg) AND not provided ClinVar Detail
NM_000094.4(COL7A1):c.7957G>A (p.Gly2653Arg) AND Epidermolysis bullosa dystrophica 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
rs121912851 dbSNP
Genome
hg38
Position
chr3:48,567,736-48,567,736
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser