RGD:28902460 Rat Genome Database

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Variant: RGD:28902460 -  Homo sapiens

RGD ID: 28902460
RS ID: rs1342494768
ClinVar ID: CV865981
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MBL2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 54,531,263
GRCh38 10 52,771,503
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_000233.1:p.Gly45Ser
NP_001365302.1:p.Gly45Ser
LRG_154:g.5198G>A
NG_008196.1:g.5198G>A
More... 		01/12/2018 missense 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_001378374
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 45
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLFPSLPLLLLSMVAASYSETVTCEDAQKTCPAVIACSSPGINSFPGKDGRDGTKGEKGEPGQGLRGLQGPPGKLGPPG
NPGPSGSPGPKGQKGDPGKSPDGDSSLAASERKALQTEMARIKKWLTFSLGKQVGNKFFLTNGEIMTFEKVKALCVKFQA
SVATPRNAAENGAIQNLIKEEAFLGITDEKTEGQFVDLTGNRLTYTNWNEGEPNNAGSDEDCVLLLKNGQWNDVPCSTSH
LAVCEFPI*

Gene Symbol:MBL2
Accession:NM_001378373
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 45
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLFPSLPLLLLSMVAASYSETVTCEDAQKTCPAVIACSSPGINSFPGKDGRDGTKGEKGEPGQGLRGLQGPPGKLGPPG
NPGPSGSPGPKGQKGDPGKSPDGDSSLAASERKALQTEMARIKKWLTFSLGKQVGNKFFLTNGEIMTFEKVKALCVKFQA
SVATPRNAAENGAIQNLIKEEAFLGITDEKTEGQFVDLTGNRLTYTNWNEGEPNNAGSDEDCVLLLKNGQWNDVPCSTSH
LAVCEFPI*

Gene Symbol:MBL2
Accession:NM_000242
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 45
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLFPSLPLLLLSMVAASYSETVTCEDAQKTCPAVIACSSPGINSFPGKDGRDGTKGEKGEPGQGLRGLQGPPGKLGPPG
NPGPSGSPGPKGQKGDPGKSPDGDSSLAASERKALQTEMARIKKWLTFSLGKQVGNKFFLTNGEIMTFEKVKALCVKFQA
SVATPRNAAENGAIQNLIKEEAFLGITDEKTEGQFVDLTGNRLTYTNWNEGEPNNAGSDEDCVLLLKNGQWNDVPCSTSH
LAVCEFPI*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001104674 CLINVAR
dbSNP (RS) rs1342494768 CLINVAR
MedGen C3280586 CLINVAR
NCBI Gene MBL2 CLINVAR
OMIM 154545 CLINVAR
  614372 CLINVAR