ClinVar

NM_000399.5(EGR2):c.500C>T (p.Pro167Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q21.3

Genomic location:

• Chr10: 62814138 (on Assembly GRCh38)
• Chr10: 64573898 (on Assembly GRCh37)

Preferred name:

NM_000399.5(EGR2):c.500C>T (p.Pro167Leu)

HGVS:

• NC_000010.11:g.62814138G>A
• NG_008936.2:g.110763C>T
• NM_000399.5:c.500C>TMANE SELECT
• NM_001136177.3:c.500C>T
• NM_001136178.2:c.500C>T
• NM_001136179.3:c.350C>T
• NM_001321037.2:c.350C>T
• NP_000390.2:p.Pro167Leu
• NP_001129649.1:p.Pro167Leu
• NP_001129650.1:p.Pro167Leu
• NP_001129651.1:p.Pro117Leu
• NP_001307966.1:p.Pro117Leu
• LRG_239t1:c.500C>T
• LRG_239:g.110763C>T
• NC_000010.10:g.64573898G>A
• NM_000399.3:c.500C>T

This HGVS expression did not pass validation

Protein change:

P117L

Links:

dbSNP: rs1842200895

NCBI 1000 Genomes Browser:

rs1842200895

Molecular consequence:

• NM_000399.5:c.500C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001136177.3:c.500C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001136178.2:c.500C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001136179.3:c.350C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321037.2:c.350C>T - missense variant - [Sequence Ontology: SO:0001583]