chr3:48572941:C>G Detail (hg38) (COL7A1)

Information

Genome

Assembly Position
hg19 chr3:48,610,374-48,610,374 View the variant detail on this assembly version.
hg38 chr3:48,572,941-48,572,941

HGVS

Type Transcript Protein
RefSeq NM_000094.3:c.6752G>C NP_000085.1:p.Gly2251Ala
Ensemble ENST00000328333.12:c.6752G>C ENST00000328333.12:p.Gly2251Ala
ENST00000681320.1:c.6752G>C ENST00000681320.1:p.Gly2251Ala
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
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
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.481 transient bullous dermolysis of the newborn NA CLINVAR Detail
0.360 TOENAIL DYSTROPHY, ISOLATED NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
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
-
Genome
hg38
Position
chr3:48,572,941-48,572,941
Variant Type
snv
Reference Allele
C
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8646
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121142
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.254775387561705E-6
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