ClinVar

NM_000325.6(PITX2):c.409C>T (p.Arg137Trp)

Gene:

PITX2:paired like homeodomain 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q25

Genomic location:

• Chr4: 110621166 (on Assembly GRCh38)
• Chr4: 111542322 (on Assembly GRCh37)

Preferred name:

NM_000325.6(PITX2):c.409C>T (p.Arg137Trp)

Other names:

R46W

HGVS:

• NC_000004.12:g.110621166G>A
• NG_007120.1:g.21187C>T
• NM_000325.6:c.409C>TMANE SELECT
• NM_001204397.2:c.388C>T
• NM_001204398.1:c.388C>T
• NM_001204399.1:c.250C>T
• NM_153426.3:c.388C>T
• NM_153427.3:c.250C>T
• NP_000316.2:p.Arg137Trp
• NP_001191326.1:p.Arg130Trp
• NP_001191327.1:p.Arg130Trp
• NP_001191328.1:p.Arg84Trp
• NP_700475.1:p.Arg130Trp
• NP_700476.1:p.Arg84Trp
• NC_000004.11:g.111542322G>A
• NM_153427.1:c.250C>T

This HGVS expression did not pass validation

Protein change:

R130W; ARG46TRP

Links:

OMIM: 601542.0007; dbSNP: rs121909248

NCBI 1000 Genomes Browser:

rs121909248

Molecular consequence:

• NM_000325.6:c.409C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001204397.2:c.388C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001204398.1:c.388C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001204399.1:c.250C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_153426.3:c.388C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_153427.3:c.250C>T - missense variant - [Sequence Ontology: SO:0001583]