RGD:11609332 Rat Genome Database

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Variant: RGD:11609332 -  Homo sapiens

RGD ID: 11609332
RS ID: rs35327474
ClinVar ID: CV315593
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MBL2  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 54,526,203
GRCh38 10 52,766,443
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_154t1:c.*1694G>T
LRG_154:g.10258G>T
NG_008196.1:g.10258G>T
NC_000010.11:g.52766443C>A
More... 		10/01/2022 3 prime utr variant benign|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; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MBL2
Accession:NM_001378374
Location:3UTRS;EXON

Gene Symbol:MBL2
Accession:NM_000242
Location:3UTRS;EXON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000367075 CLINVAR
  RCV003417971 CLINVAR
dbSNP (RS) rs35327474 CLINVAR
MedGen C3280586 CLINVAR
  C3661900 CLINVAR
NCBI Gene MBL2 CLINVAR
OMIM 154545 CLINVAR
  614372 CLINVAR