ClinVar

NM_001495.5(GFRA2):c.725C>T (p.Ser242Phe)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8p21.3

Genomic location:

• Chr8: 21750657 (on Assembly GRCh38)
• Chr8: 21608169 (on Assembly GRCh37)

Preferred name:

NM_001495.5(GFRA2):c.725C>T (p.Ser242Phe)

HGVS:

• NC_000008.11:g.21750657G>A
• NG_029215.1:g.43178C>T
• NG_029215.2:g.43178C>T
• NM_001165038.2:c.410C>T
• NM_001165039.2:c.326C>T
• NM_001495.5:c.725C>TMANE SELECT
• NP_001158510.1:p.Ser137Phe
• NP_001158511.1:p.Ser109Phe
• NP_001486.4:p.Ser242Phe
• NC_000008.10:g.21608169G>A

This HGVS expression did not pass validation

Protein change:

S109F

Links:

dbSNP: rs796065050

NCBI 1000 Genomes Browser:

rs796065050

Molecular consequence:

• NM_001165038.2:c.410C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001165039.2:c.326C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001495.5:c.725C>T - missense variant - [Sequence Ontology: SO:0001583]