RGD:127235060 Rat Genome Database

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Variant: RGD:127235060 -  Homo sapiens

RGD ID: 127235060
RS ID: rs2102419910
ClinVar ID: CV1088440
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LAMB3  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 209,798,985
GRCh38 1 209,625,640
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000228.3:c.1976+8C>A
NM_001017402.2:c.1976+8C>A
NM_001127641.1:c.1976+8C>A
NG_007116.1:g.31836C>A
More... 		04/27/2020 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:LAMB3
Accession:XM_017001272
Location:INTRON

Gene Symbol:LAMB3
Accession:NM_000228
Location:INTRON

Gene Symbol:LAMB3
Accession:NM_001017402
Location:INTRON

Gene Symbol:LAMB3
Accession:XM_005273124
Location:INTRON

Gene Symbol:LAMB3
Accession:XM_047420351
Location:INTRON

Gene Symbol:LAMB3
Accession:NM_001127641
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001433020 CLINVAR
dbSNP (RS) rs2102419910 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene LAMB3 CLINVAR
OMIM 150310 CLINVAR