RGD:28901996 Rat Genome Database

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Variant: RGD:28901996 -  Homo sapiens

RGD ID: 28901996
RS ID: rs747317698
ClinVar ID: CV865958
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MBL2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 10 54,525,688
GRCh38 10 52,765,928
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_154t1:c.*2209T>C
NM_000242.3:c.*2209T>C
NM_001378373.1:c.*2209T>C
NM_001378374.1:c.*2209T>C
More... 		01/13/2018 3 prime utr variant uncertain significance Chronic infections, due to MBL deficiency; LECTIN COMPLEMENT ACTIVATION PATHWAY, DEFECT IN, 1; Mannose-binding protein deficiency; MBL DEFICIENCY; MBL2 DEFICIENCY; MBP DEFICIENCY
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MBL2
Accession:NM_000242
Location:3UTRS;EXON

Gene Symbol:MBL2
Accession:NM_001378373
Location:3UTRS;EXON

Gene Symbol:MBL2
Accession:NM_001378374
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001104481 CLINVAR
dbSNP (RS) rs747317698 CLINVAR
MedGen C3280586 CLINVAR
NCBI Gene MBL2 CLINVAR
OMIM 154545 CLINVAR
  614372 CLINVAR