ClinVar

NM_000325.6(PITX2):c.431G>A (p.Arg144Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

4q25

Genomic location:

• Chr4: 110618669 (on Assembly GRCh38)
• Chr4: 111539825 (on Assembly GRCh37)

Preferred name:

NM_000325.6(PITX2):c.431G>A (p.Arg144Gln)

HGVS:

• NC_000004.12:g.110618669C>T
• NG_007120.1:g.23684G>A
• NM_000325.6:c.431G>AMANE SELECT
• NM_001204397.2:c.410G>A
• NM_001204398.1:c.410G>A
• NM_001204399.1:c.272G>A
• NM_153426.3:c.410G>A
• NM_153427.3:c.272G>A
• NP_000316.2:p.Arg144Gln
• NP_001191326.1:p.Arg137Gln
• NP_001191327.1:p.Arg137Gln
• NP_001191328.1:p.Arg91Gln
• NP_700475.1:p.Arg137Gln
• NP_700476.1:p.Arg91Gln
• NC_000004.11:g.111539825C>T
• NM_153427.2:c.272G>A

This HGVS expression did not pass validation

Protein change:

R137Q

Links:

dbSNP: rs104893859

NCBI 1000 Genomes Browser:

rs104893859

Molecular consequence:

• NM_000325.6:c.431G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001204397.2:c.410G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001204398.1:c.410G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001204399.1:c.272G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_153426.3:c.410G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_153427.3:c.272G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2