ClinVar

NM_016734.3(PAX5):c.661C>T (p.Arg221Trp)

Gene:

PAX5:paired box 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9p13.2

Genomic location:

• Chr9: 36966668 (on Assembly GRCh38)
• Chr9: 36966665 (on Assembly GRCh37)

Preferred name:

NM_016734.3(PAX5):c.661C>T (p.Arg221Trp)

HGVS:

• NC_000009.12:g.36966668G>A
• NG_033894.1:g.72812C>T
• NM_001280547.2:c.661C>T
• NM_001280548.2:c.661C>T
• NM_001280549.2:c.661C>T
• NM_001280550.2:c.661C>T
• NM_001280551.2:c.337C>T
• NM_001280552.2:c.661C>T
• NM_001280553.2:c.532C>T
• NM_001280554.2:c.532C>T
• NM_001280555.2:c.463C>T
• NM_001280556.2:c.337C>T
• NM_016734.3:c.661C>TMANE SELECT
• NP_001267476.1:p.Arg221Trp
• NP_001267477.1:p.Arg221Trp
• NP_001267478.1:p.Arg221Trp
• NP_001267479.1:p.Arg221Trp
• NP_001267480.1:p.Arg113Trp
• NP_001267481.1:p.Arg221Trp
• NP_001267482.1:p.Arg178Trp
• NP_001267483.1:p.Arg178Trp
• NP_001267484.1:p.Arg155Trp
• NP_001267485.1:p.Arg113Trp
• NP_057953.1:p.Arg221Trp
• LRG_1384t1:c.661C>T
• LRG_1384:g.72812C>T
• LRG_1384p1:p.Arg221Trp
• NC_000009.11:g.36966665G>A
• NM_016734.2:c.661C>T
• NR_103999.2:n.898C>T
• NR_104000.2:n.898C>T

This HGVS expression did not pass validation

Protein change:

R113W

Links:

dbSNP: rs2132194720

NCBI 1000 Genomes Browser:

rs2132194720

Molecular consequence:

• NM_001280547.2:c.661C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001280548.2:c.661C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001280549.2:c.661C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001280550.2:c.661C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001280551.2:c.337C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001280552.2:c.661C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001280553.2:c.532C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001280554.2:c.532C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001280555.2:c.463C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001280556.2:c.337C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_016734.3:c.661C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_103999.2:n.898C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_104000.2:n.898C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]