chr3:48603714:A>T Detail (hg19) (COL7A1)

Information

Genome

Assembly Position
hg19 chr3:48,603,714-48,603,714
hg38 chr3:48,566,281-48,566,281 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000094.3:c.8393T>A NP_000085.1:p.Met2798Lys
Ensemble ENST00000328333.12:c.8393T>A ENST00000328333.12:p.Met2798Lys
ENST00000681320.1:c.8393T>A ENST00000681320.1:p.Met2798Lys
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 1993-05-01 no assertion criteria provided recessive dystrophic epidermolysis bullosa germline Detail
Pathogenic 2023-09-17 criteria provided, single submitter not provided 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.8393T>A (p.Met2798Lys) AND Recessive dystrophic epidermolysis bullosa ClinVar Detail
NM_000094.4(COL7A1):c.8393T>A (p.Met2798Lys) AND not provided 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
rs121912828 dbSNP
Genome
hg19
Position
chr3:48,603,714-48,603,714
Variant Type
snv
Reference Allele
A
Alternative Allele
T
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