chr1:209627425:ACACG> Detail (hg38) (LAMB3)

Information

Genome

Assembly Position
hg19 chr1:209,800,770-209,800,774 
hg38 chr1:209,627,425-209,627,429

HGVS

Type Transcript Protein
RefSeq NM_000228.2:c.1439_1443delCGTGT NP_000219.2:p.Pro480ArgfsTer54
NM_001127641.1:c.1439_1443delCGTGT NP_001121113.1:p.Pro480ArgfsTer54
NM_001017402.1:c.1439_1443delCGTGT NP_001017402.1:p.Pro480ArgfsTer54
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 150310 OMIM
HGNC 6490 HGNC
Ensembl ENSG00000196878 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 1998-12-01 no assertion criteria provided Junctional epidermolysis bullosa, non-Herlitz type germline Detail
Pathogenic 2022-04-27 criteria provided, single submitter junctional epidermolysis bullosa germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.560 Adult junctional epidermolysis bullosa (disorder) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000228.3(LAMB3):c.1439_1443del (p.Pro480fs) AND Junctional epidermolysis bullosa, non-Herlitz typ... ClinVar Detail
NM_000228.3(LAMB3):c.1439_1443del (p.Pro480fs) AND Junctional epidermolysis bullosa 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
rs786205095 dbSNP
Genome
hg38
Position
chr1:209,627,425-209,627,429
Variant Type
snv
Reference Allele
ACACG
Alternative Allele
-
Genome browser