chr3:48618916:C>G Detail (hg19) (COL7A1)

Information

Genome

Assembly Position
hg19 chr3:48,618,916-48,618,916
hg38 chr3:48,581,483-48,581,483 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000094.3:c.4783G>C NP_000085.1:p.Gly1595Arg
Ensemble ENST00000328333.12:c.4783G>C ENST00000328333.12:p.Gly1595Arg
ENST00000681320.1:c.4783G>C ENST00000681320.1:p.Gly1595Arg
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 recessive dystrophic epidermolysis bullosa germline Detail
Pathogenic 2002-02-01 no assertion criteria provided nonsyndromic congenital nail disorder 8 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.458 Hallopeau-Siemens Disease NA CLINVAR Detail
0.360 TOENAIL DYSTROPHY, ISOLATED NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000094.4(COL7A1):c.4783G>C (p.Gly1595Arg) AND Recessive dystrophic epidermolysis bullosa ClinVar Detail
NM_000094.4(COL7A1):c.4783G>C (p.Gly1595Arg) AND Nonsyndromic congenital nail disorder 8 ClinVar Detail
NA DisGeNET 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
rs121912840 dbSNP
Genome
hg19
Position
chr3:48,618,916-48,618,916
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Genome browser