chr1:209633079:T>G Detail (hg38) (LAMB3)

Information

Genome

Assembly Position
hg19 chr1:209,806,424-209,806,424 View the variant detail on this assembly version.
hg38 chr1:209,633,079-209,633,079

HGVS

Type Transcript Protein
RefSeq NM_000228.2:c.619A>C NP_000219.2:p.Lys207Gln
NM_001127641.1:c.619A>C NP_001121113.1:p.Lys207Gln
NM_001017402.1:c.619A>C NP_001017402.1:p.Lys207Gln
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 2007-05-01 no assertion criteria provided Junctional epidermolysis bullosa, non-Herlitz type somatic 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.619A>C (p.Lys207Gln) AND Junctional epidermolysis bullosa, non-Herlitz type 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
rs121912487 dbSNP
Genome
hg38
Position
chr1:209,633,079-209,633,079
Variant Type
snv
Reference Allele
T
Alternative Allele
G
Genome browser