ClinVar

NM_002180.3(IGHMBP2):c.181G>C (p.Gly61Arg)

Gene:

IGHMBP2:immunoglobulin mu DNA binding protein 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.3

Genomic location:

• Chr11: 68906163 (on Assembly GRCh38)
• Chr11: 68673631 (on Assembly GRCh37)

Preferred name:

NM_002180.3(IGHMBP2):c.181G>C (p.Gly61Arg)

HGVS:

• NC_000011.10:g.68906163G>C
• NG_007976.1:g.7313G>C
• NM_002180.3:c.181G>CMANE SELECT
• NP_002171.2:p.Gly61Arg
• NP_002171.2:p.Gly61Arg
• LRG_250t1:c.181G>C
• LRG_250:g.7313G>C
• LRG_250p1:p.Gly61Arg
• NC_000011.9:g.68673631G>C
• NM_002180.2:c.181G>C

This HGVS expression did not pass validation

Protein change:

G61R

Links:

dbSNP: rs1057518943

NCBI 1000 Genomes Browser:

rs1057518943

Molecular consequence:

• NM_002180.3:c.181G>C - missense variant - [Sequence Ontology: SO:0001583]