ClinVar

NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp)

Gene:

EGR2:early growth response 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q21.3

Genomic location:

• Chr10: 62813563 (on Assembly GRCh38)
• Chr10: 64573323 (on Assembly GRCh37)

Preferred name:

NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp)

HGVS:

• NC_000010.11:g.62813563G>A
• NG_008936.2:g.111338C>T
• NM_000399.5:c.1075C>TMANE SELECT
• NM_001136177.3:c.1075C>T
• NM_001136178.2:c.1075C>T
• NM_001136179.3:c.925C>T
• NM_001321037.2:c.925C>T
• NP_000390.2:p.Arg359Trp
• NP_001129649.1:p.Arg359Trp
• NP_001129650.1:p.Arg359Trp
• NP_001129651.1:p.Arg309Trp
• NP_001307966.1:p.Arg309Trp
• LRG_239t1:c.1075C>T
• LRG_239:g.111338C>T
• NC_000010.10:g.64573323G>A
• NM_000399.3:c.1075C>T
• P11161:p.Arg359Trp

This HGVS expression did not pass validation

Protein change:

R309W; ARG359TRP

Links:

UniProtKB: P11161#VAR_009874; OMIM: 129010.0004; dbSNP: rs104894161

NCBI 1000 Genomes Browser:

rs104894161

Molecular consequence:

• NM_000399.5:c.1075C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001136177.3:c.1075C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001136178.2:c.1075C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001136179.3:c.925C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321037.2:c.925C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1