rs5030737 Rat Genome Database

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Variant: rs5030737 -  Homo sapiens

RGD ID: 8564205
RS ID: rs5030737
ClinVar ID: CV29391
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MBL2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 54,531,242
GRCh38 10 52,771,482
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_154:g.5219C>T
NC_000010.11:g.52771482G>A
NM_000242.2:c.154C>T
P11226:p.Arg52Cys
More... 		10/21/2022 missense|missense variant pathogenic|risk factor|conflicting interpretations of pathogenicity|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; Mucoviscidosis; none provided
Disease Annotations     Click to see Annotation Detail View

GWAS Catalog Data
GWAS Catalog Study Disease Trait Study Size Risk Allele Risk Allele Frequency P Value P Value MLOG SNP Passing QC Reported Odds Ratio or Beta-coefficient Ontology Accession PubMed
GCST90248506 Mannose-binding protein C levels 10,708 European ancestry individuals A 0.07 6E-46 45.221848749616356 Affymetrix, Illumina [10200000] (imputed) 0.386 mannose-binding protein C measurement (EFO:0008224)
 PMID:34648354
GCST90088178 Serum levels of protein MBL2 5,368 Icelandic ancestry individuals A 0.05074 2E-12 11.698970004336019 Illumina [7506463] (imputed) 0.303033 blood protein measurement (EFO:0007937)
 PMID:35078996

Variant Details
Variant Transcripts
Gene Symbol:MBL2
Accession:NM_001378373
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 52
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLFPSLPLLLLSMVAASYSETVTCEDAQKTCPAVIACSSPGINGFPGKDGCDGTKGEKGEPGQGLRGLQGPPGKLGPPG
NPGPSGSPGPKGQKGDPGKSPDGDSSLAASERKALQTEMARIKKWLTFSLGKQVGNKFFLTNGEIMTFEKVKALCVKFQA
SVATPRNAAENGAIQNLIKEEAFLGITDEKTEGQFVDLTGNRLTYTNWNEGEPNNAGSDEDCVLLLKNGQWNDVPCSTSH
LAVCEFPI*

Gene Symbol:MBL2
Accession:NM_001378374
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 52
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLFPSLPLLLLSMVAASYSETVTCEDAQKTCPAVIACSSPGINGFPGKDGCDGTKGEKGEPGQGLRGLQGPPGKLGPPG
NPGPSGSPGPKGQKGDPGKSPDGDSSLAASERKALQTEMARIKKWLTFSLGKQVGNKFFLTNGEIMTFEKVKALCVKFQA
SVATPRNAAENGAIQNLIKEEAFLGITDEKTEGQFVDLTGNRLTYTNWNEGEPNNAGSDEDCVLLLKNGQWNDVPCSTSH
LAVCEFPI*

Gene Symbol:MBL2
Accession:NM_000242
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 52
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLFPSLPLLLLSMVAASYSETVTCEDAQKTCPAVIACSSPGINGFPGKDGCDGTKGEKGEPGQGLRGLQGPPGKLGPPG
NPGPSGSPGPKGQKGDPGKSPDGDSSLAASERKALQTEMARIKKWLTFSLGKQVGNKFFLTNGEIMTFEKVKALCVKFQA
SVATPRNAAENGAIQNLIKEEAFLGITDEKTEGQFVDLTGNRLTYTNWNEGEPNNAGSDEDCVLLLKNGQWNDVPCSTSH
LAVCEFPI*
Variant Samples
Additional References at PubMed
PMID:7707811   PMID:8206524   PMID:10071515   PMID:10449435   PMID:15674393   PMID:16912583   PMID:18292811   PMID:20068595   PMID:22323042   PMID:22377282   PMID:22940091   PMID:24753481  
PMID:25178872   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000015426 CLINVAR
  RCV000991134 CLINVAR
  RCV002274881 CLINVAR
dbSNP (RS) rs5030737 CLINVAR
GWAS Catalog GCST90088178 GWAS Catalog
MedGen C0010674 CLINVAR
  C3280586 CLINVAR
  C3661900 CLINVAR
NCBI Gene MBL2 CLINVAR
OMIM 154545 CLINVAR
  219700 CLINVAR
  614372 CLINVAR
OMIM Allele 154545.0003 CLINVAR
SNOMED CT 190905008 CLINVAR