ClinVar

NM_007175.8(ERLIN2):c.395C>T (p.Thr132Met)

Gene:

ERLIN2:ER lipid raft associated 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8p11.23

Genomic location:

• Chr8: 37744667 (on Assembly GRCh38)
• Chr8: 37602185 (on Assembly GRCh37)

Preferred name:

NM_007175.8(ERLIN2):c.395C>T (p.Thr132Met)

HGVS:

• NC_000008.11:g.37744667C>T
• NG_032059.1:g.13089C>T
• NM_001003790.4:c.395C>T
• NM_001003791.3:c.395C>T
• NM_001362878.2:c.395C>T
• NM_001362880.2:c.395C>T
• NM_007175.8:c.395C>TMANE SELECT
• NP_001003790.1:p.Thr132Met
• NP_001003791.1:p.Thr132Met
• NP_001349807.1:p.Thr132Met
• NP_001349809.1:p.Thr132Met
• NP_009106.1:p.Thr132Met
• LRG_1040t1:c.395C>T
• LRG_1040t2:c.395C>T
• LRG_1040:g.13089C>T
• LRG_1040p1:p.Thr132Met
• LRG_1040p2:p.Thr132Met
• NC_000008.10:g.37602185C>T

This HGVS expression did not pass validation

Protein change:

T132M

Links:

dbSNP: rs772986050

NCBI 1000 Genomes Browser:

rs772986050

Molecular consequence:

• NM_001003790.4:c.395C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001003791.3:c.395C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001362878.2:c.395C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001362880.2:c.395C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_007175.8:c.395C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1