ClinVar

NM_002180.3(IGHMBP2):c.344C>T (p.Thr115Met)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.3

Genomic location:

• Chr11: 68908232 (on Assembly GRCh38)
• Chr11: 68675700 (on Assembly GRCh37)

Preferred name:

NM_002180.3(IGHMBP2):c.344C>T (p.Thr115Met)

HGVS:

• NC_000011.10:g.68908232C>T
• NG_007976.1:g.9382C>T
• NM_002180.3:c.344C>TMANE SELECT
• NP_002171.2:p.Thr115Met
• NP_002171.2:p.Thr115Met
• LRG_250t1:c.344C>T
• LRG_250:g.9382C>T
• LRG_250p1:p.Thr115Met
• NC_000011.9:g.68675700C>T
• NM_002180.2:c.344C>T

This HGVS expression did not pass validation

Protein change:

T115M

Links:

dbSNP: rs181657861

NCBI 1000 Genomes Browser:

rs181657861

Molecular consequence:

• NM_002180.3:c.344C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1