RGD:127257117 Rat Genome Database

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Variant: RGD:127257117 -  Homo sapiens

RGD ID: 127257117
RS ID: rs2086941192
ClinVar ID: CV1102970
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: B2M  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 15 45,008,523
GRCh38 15 44,716,325
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004048.4:c.347-4A>G
LRG_1215:g.9849A>G
NG_012920.2:g.9849A>G
NC_000015.10:g.44716325A>G
More... 		07/18/2019 intron variant likely benign B2M DEFICIENCY; BETA-2-MICROGLOBULIN DEFICIENCY; IMMUNODEFICIENCY 43
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:B2M
Accession:NM_004048
Location:INTRON

Gene Symbol:B2M
Accession:XM_005254549
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001427001 CLINVAR
dbSNP (RS) rs2086941192 CLINVAR
MedGen C1855796 CLINVAR
NCBI Gene B2M CLINVAR
OMIM 109700 CLINVAR
  241600 CLINVAR