ClinVar

NM_001495.5(GFRA2):c.775C>T (p.Arg259Trp)

Gene:

GFRA2:GDNF family receptor alpha 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8p21.3

Genomic location:

• Chr8: 21750607 (on Assembly GRCh38)
• Chr8: 21608119 (on Assembly GRCh37)

Preferred name:

NM_001495.5(GFRA2):c.775C>T (p.Arg259Trp)

HGVS:

• NC_000008.11:g.21750607G>A
• NG_029215.2:g.43228C>T
• NG_029215.3:g.66738C>T
• NM_001165038.2:c.460C>T
• NM_001165039.2:c.376C>T
• NM_001495.5:c.775C>TMANE SELECT
• NP_001158510.1:p.Arg154Trp
• NP_001158511.1:p.Arg126Trp
• NP_001486.4:p.Arg259Trp
• NC_000008.10:g.21608119G>A
• NM_001495.4:c.775C>T

This HGVS expression did not pass validation

Protein change:

R126W

Molecular consequence:

• NM_001165038.2:c.460C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001165039.2:c.376C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001495.5:c.775C>T - missense variant - [Sequence Ontology: SO:0001583]