RGD:401938304 Rat Genome Database

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Variant: RGD:401938304 -  Homo sapiens

RGD ID: 401938304
ClinVar ID: CV2813172
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MBL2  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 10 54,531,278
GRCh38 10 52,771,518
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_154t1:c.118T>G
NM_000242.3:c.118T>G
NM_001378373.1:c.118T>G
NM_001378374.1:c.118T>G
More... 		03/01/2023 missense variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:MBL2
Accession:NM_000242
Location:EXON
Amino Acid Prediction: S to A (nonsynonymous)
Amino Acid Position: 40
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLFPSLPLLLLSMVAASYSETVTCEDAQKTCPAVIACSAPGINGFPGKDGRDGTKGEKGEPGQGLRGLQGPPGKLGPPG
NPGPSGSPGPKGQKGDPGKSPDGDSSLAASERKALQTEMARIKKWLTFSLGKQVGNKFFLTNGEIMTFEKVKALCVKFQA
SVATPRNAAENGAIQNLIKEEAFLGITDEKTEGQFVDLTGNRLTYTNWNEGEPNNAGSDEDCVLLLKNGQWNDVPCSTSH
LAVCEFPI*

Gene Symbol:MBL2
Accession:NM_001378373
Location:EXON
Amino Acid Prediction: S to A (nonsynonymous)
Amino Acid Position: 40
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLFPSLPLLLLSMVAASYSETVTCEDAQKTCPAVIACSAPGINGFPGKDGRDGTKGEKGEPGQGLRGLQGPPGKLGPPG
NPGPSGSPGPKGQKGDPGKSPDGDSSLAASERKALQTEMARIKKWLTFSLGKQVGNKFFLTNGEIMTFEKVKALCVKFQA
SVATPRNAAENGAIQNLIKEEAFLGITDEKTEGQFVDLTGNRLTYTNWNEGEPNNAGSDEDCVLLLKNGQWNDVPCSTSH
LAVCEFPI*

Gene Symbol:MBL2
Accession:NM_001378374
Location:EXON
Amino Acid Prediction: S to A (nonsynonymous)
Amino Acid Position: 40
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLFPSLPLLLLSMVAASYSETVTCEDAQKTCPAVIACSAPGINGFPGKDGRDGTKGEKGEPGQGLRGLQGPPGKLGPPG
NPGPSGSPGPKGQKGDPGKSPDGDSSLAASERKALQTEMARIKKWLTFSLGKQVGNKFFLTNGEIMTFEKVKALCVKFQA
SVATPRNAAENGAIQNLIKEEAFLGITDEKTEGQFVDLTGNRLTYTNWNEGEPNNAGSDEDCVLLLKNGQWNDVPCSTSH
LAVCEFPI*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003417394 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene MBL2 CLINVAR
OMIM 154545 CLINVAR