ClinVar

NM_001374353.1(GLI2):c.1366C>T (p.Arg456Cys)

Gene:

GLI2:GLI family zinc finger 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q14.2

Genomic location:

• Chr2: 120978482 (on Assembly GRCh38)
• Chr2: 121736058 (on Assembly GRCh37)

Preferred name:

NM_001374353.1(GLI2):c.1366C>T (p.Arg456Cys)

HGVS:

• NC_000002.12:g.120978482C>T
• NG_009030.1:g.186192C>T
• NG_009030.2:g.247616C>T
• NM_001371271.1:c.1417C>T
• NM_001374353.1:c.1366C>TMANE SELECT
• NM_001374354.1:c.991C>T
• NM_005270.5:c.1417C>T
• NP_001358200.1:p.Arg473Cys
• NP_001361282.1:p.Arg456Cys
• NP_001361283.1:p.Arg331Cys
• NP_005261.2:p.Arg473Cys
• NC_000002.11:g.121736058C>T
• NM_005270.4:c.1417C>T

This HGVS expression did not pass validation

Protein change:

R331C

Molecular consequence:

• NM_001371271.1:c.1417C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374353.1:c.1366C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374354.1:c.991C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_005270.5:c.1417C>T - missense variant - [Sequence Ontology: SO:0001583]