ClinVar

NM_001378373.1(MBL2):c.154C>T (p.Arg52Cys)

Gene:

MBL2:mannose binding lectin 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q21.1

Genomic location:

• Chr10: 52771482 (on Assembly GRCh38)
• Chr10: 54531242 (on Assembly GRCh37)

Preferred name:

NM_001378373.1(MBL2):c.154C>T (p.Arg52Cys)

Other names:

R52C

HGVS:

• NC_000010.11:g.52771482G>A
• NG_008196.1:g.5219C>T
• NM_000242.3:c.154C>T
• NM_001378373.1:c.154C>TMANE SELECT
• NM_001378374.1:c.154C>T
• NP_000233.1:p.Arg52Cys
• NP_001365302.1:p.Arg52Cys
• NP_001365303.1:p.Arg52Cys
• LRG_154t1:c.154C>T
• LRG_154:g.5219C>T
• NC_000010.10:g.54531242G>A
• NG_008196.1:p.Arg52Cys
• NM_000242.2:c.154C>T
• P11226:p.Arg52Cys

This HGVS expression did not pass validation

Protein change:

ARG52CYS

Links:

Genetic Testing Registry (GTR): GTR000509360; UniProtKB: P11226#VAR_008543; OMIM: 154545.0003; dbSNP: rs5030737

NCBI 1000 Genomes Browser:

rs5030737

Molecular consequence:

• NM_000242.3:c.154C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378373.1:c.154C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378374.1:c.154C>T - missense variant - [Sequence Ontology: SO:0001583]