RGD:28902227 Rat Genome Database

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Variant: RGD:28902227 -  Homo sapiens

RGD ID: 28902227
RS ID: rs1336069649
ClinVar ID: CV865967
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MBL2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 10 54,526,931
GRCh38 10 52,767,171
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000010.11:g.52767171T>C
NC_000010.10:g.54526931T>C
NM_000242.2:c.*966A>G
LRG_154t1:c.*966A>G
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_001378373
Location:3UTRS;EXON

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001104578 CLINVAR
dbSNP (RS) rs1336069649 CLINVAR
MedGen C3280586 CLINVAR
NCBI Gene MBL2 CLINVAR
OMIM 154545 CLINVAR
  614372 CLINVAR