ClinVar

NM_002180.3(IGHMBP2):c.2T>C (p.Met1Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.3

Genomic location:

• Chr11: 68903954 (on Assembly GRCh38)
• Chr11: 68671422 (on Assembly GRCh37)

Preferred name:

NM_002180.3(IGHMBP2):c.2T>C (p.Met1Thr)

HGVS:

• NC_000011.10:g.68903954T>C
• NG_007976.1:g.5104T>C
• NM_002180.3:c.2T>CMANE SELECT
• NP_002171.2:p.Met1Thr
• NP_002171.2:p.Met1Thr
• LRG_250t1:c.2T>C
• LRG_250:g.5104T>C
• LRG_250p1:p.Met1Thr
• NC_000011.9:g.68671422T>C
• NM_002180.2:c.2T>C

This HGVS expression did not pass validation

Protein change:

M1T

Links:

dbSNP: rs886037759

NCBI 1000 Genomes Browser:

rs886037759

Molecular consequence:

• NM_002180.3:c.2T>C - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_002180.3:c.2T>C - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

initiation codon change [Variation Ontology: 0317] - Comment(s)

• altering initiation codon for translation, predicted no protein

Observations:

1