ClinVar

NM_000399.5(EGR2):c.1179C>T (p.Thr393=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q21.3

Genomic location:

• Chr10: 62813459 (on Assembly GRCh38)
• Chr10: 64573219 (on Assembly GRCh37)

Preferred name:

NM_000399.5(EGR2):c.1179C>T (p.Thr393=)

HGVS:

• NC_000010.11:g.62813459G>A
• NG_008936.2:g.111442C>T
• NM_000399.5:c.1179C>TMANE SELECT
• NM_001136177.3:c.1179C>T
• NM_001136178.2:c.1179C>T
• NM_001136179.3:c.1029C>T
• NM_001321037.2:c.1029C>T
• NP_000390.2:p.Thr393=
• NP_001129649.1:p.Thr393=
• NP_001129650.1:p.Thr393=
• NP_001129651.1:p.Thr343=
• NP_001307966.1:p.Thr343=
• LRG_239:g.111442C>T
• NC_000010.10:g.64573219G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs965148587

NCBI 1000 Genomes Browser:

rs965148587

Molecular consequence:

• NM_000399.5:c.1179C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001136177.3:c.1179C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001136178.2:c.1179C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001136179.3:c.1029C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001321037.2:c.1029C>T - synonymous variant - [Sequence Ontology: SO:0001819]