chr3:48630046:G>A Detail (hg19) (COL7A1)

Information

Genome

Assembly Position
hg19 chr3:48,630,046-48,630,046
hg38 chr3:48,592,613-48,592,613 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000094.3:c.933C>T NP_000085.1:p.Tyr311=
Ensemble ENST00000681320.1:c.933C>T ENST00000681320.1:p.Tyr311=
ENST00000328333.12:c.933C>T ENST00000328333.12:p.Tyr311=
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 Likely benign
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 COSM168842 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely benign criteria provided, single submitter not specified germline Detail
Likely benign 2024-01-29 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.933C>T (p.Tyr311=) AND not specified ClinVar Detail
NM_000094.4(COL7A1):c.933C>T (p.Tyr311=) 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
rs121912830 dbSNP
Genome
hg19
Position
chr3:48,630,046-48,630,046
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8630
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)
121022
Allele Counts in All Race (ExAC)
11
Heterozygous Counts in All Race (ExAC)
11
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
9.089256498818396E-5
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