ClinVar

NM_018723.4(RBFOX1):c.175C>T (p.Pro59Ser)

Gene:

RBFOX1:RNA binding fox-1 homolog 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

• Chr16: 7518294 (on Assembly GRCh38)
• Chr16: 7568296 (on Assembly GRCh37)

Preferred name:

NM_018723.4(RBFOX1):c.175C>T (p.Pro59Ser)

HGVS:

• NC_000016.10:g.7518294C>T
• NG_011881.2:g.2283543C>T
• NM_001142333.2:c.175C>T
• NM_001142334.2:c.175C>T
• NM_001308117.1:c.304C>T
• NM_001364800.2:c.175C>T
• NM_018723.4:c.175C>TMANE SELECT
• NM_145891.3:c.235C>T
• NM_145892.3:c.235C>T
• NM_145893.3:c.235C>T
• NP_001135805.1:p.Pro59Ser
• NP_001135806.1:p.Pro59Ser
• NP_001295046.1:p.Pro102Ser
• NP_001351729.1:p.Pro59Ser
• NP_061193.2:p.Pro59Ser
• NP_665898.1:p.Pro79Ser
• NP_665899.1:p.Pro79Ser
• NP_665900.1:p.Pro79Ser
• NC_000016.9:g.7568296C>T
• NM_145891.2:c.235C>T

This HGVS expression did not pass validation

Protein change:

P102S

Links:

dbSNP: rs137880529

NCBI 1000 Genomes Browser:

rs137880529

Molecular consequence:

• NM_001142333.2:c.175C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142334.2:c.175C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001308117.1:c.304C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001364800.2:c.175C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_018723.4:c.175C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_145891.3:c.235C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_145892.3:c.235C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_145893.3:c.235C>T - missense variant - [Sequence Ontology: SO:0001583]