chr3:48602891:G>A Detail (hg19) (COL7A1)

Information

Genome

Assembly Position
hg19 chr3:48,602,891-48,602,891
hg38 chr3:48,565,458-48,565,458 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000094.3:c.8479C>T NP_000085.1:p.Gln2827Ter
Ensemble ENST00000328333.12:c.8479C>T ENST00000328333.12:p.Gln2827Ter
ENST00000681320.1:c.8479C>T ENST00000681320.1:p.Gln2827Ter
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 2002-02-01 no assertion criteria provided Epidermolysis bullosa dystrophica inversa, autosomal recessive 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.8479C>T (p.Gln2827Ter) AND Epidermolysis bullosa dystrophica inversa, autosoma... 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
rs387906604 dbSNP
Genome
hg19
Position
chr3:48,602,891-48,602,891
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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