ClinVar

NM_001366722.1(GRIP1):c.1015C>T (p.Arg339Trp)

Gene:

GRIP1:glutamate receptor interacting protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q14.3

Genomic location:

• Chr12: 66462951 (on Assembly GRCh38)
• Chr12: 66856731 (on Assembly GRCh37)

Preferred name:

NM_001366722.1(GRIP1):c.1015C>T (p.Arg339Trp)

HGVS:

• NC_000012.12:g.66462951G>A
• NG_021400.2:g.611315C>T
• NM_001178074.2:c.1015C>T
• NM_001366722.1:c.1015C>TMANE SELECT
• NM_001366723.1:c.1093C>T
• NM_001366724.1:c.1093C>T
• NM_021150.4:c.1015C>T
• NP_001171545.1:p.Arg339Trp
• NP_001353651.1:p.Arg339Trp
• NP_001353652.1:p.Arg365Trp
• NP_001353653.1:p.Arg365Trp
• NP_066973.2:p.Arg339Trp
• NC_000012.11:g.66856731G>A
• NG_021400.1:g.221195C>T
• NM_021150.3:c.1015C>T

This HGVS expression did not pass validation

Protein change:

R339W

Links:

dbSNP: rs377476830

NCBI 1000 Genomes Browser:

rs377476830

Molecular consequence:

• NM_001178074.2:c.1015C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001366722.1:c.1015C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001366723.1:c.1093C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001366724.1:c.1093C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_021150.4:c.1015C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1