ClinVar

NM_000399.5(EGR2):c.1248C>T (p.His416=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q21.3

Genomic location:

• Chr10: 62813390 (on Assembly GRCh38)
• Chr10: 64573150 (on Assembly GRCh37)

Preferred name:

NM_000399.5(EGR2):c.1248C>T (p.His416=)

HGVS:

• NC_000010.11:g.62813390G>A
• NG_008936.2:g.111511C>T
• NM_000399.5:c.1248C>TMANE SELECT
• NM_001136177.3:c.1248C>T
• NM_001136178.2:c.1248C>T
• NM_001136179.3:c.1098C>T
• NM_001321037.2:c.1098C>T
• NP_000390.2:p.His416=
• NP_001129649.1:p.His416=
• NP_001129650.1:p.His416=
• NP_001129651.1:p.His366=
• NP_001307966.1:p.His366=
• LRG_239t1:c.1248C>T
• LRG_239:g.111511C>T
• NC_000010.10:g.64573150G>A
• NM_000399.3:c.1248C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1589080344

NCBI 1000 Genomes Browser:

rs1589080344

Molecular consequence:

• NM_000399.5:c.1248C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001136177.3:c.1248C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001136178.2:c.1248C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001136179.3:c.1098C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001321037.2:c.1098C>T - synonymous variant - [Sequence Ontology: SO:0001819]