ClinVar

NM_015466.4(PTPN23):c.695G>A (p.Arg232Gln)

Gene:

PTPN23:protein tyrosine phosphatase non-receptor type 23 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p21.31

Genomic location:

• Chr3: 47406548 (on Assembly GRCh38)
• Chr3: 47448038 (on Assembly GRCh37)

Preferred name:

NM_015466.4(PTPN23):c.695G>A (p.Arg232Gln)

HGVS:

• NC_000003.12:g.47406548G>A
• NG_051056.1:g.30567G>A
• NM_001304482.2:c.317G>A
• NM_015466.4:c.695G>AMANE SELECT
• NP_001291411.1:p.Arg106Gln
• NP_056281.1:p.Arg232Gln
• NC_000003.11:g.47448038G>A
• NM_015466.2:c.695G>A

This HGVS expression did not pass validation

Protein change:

R106Q

Links:

dbSNP: rs577689618

NCBI 1000 Genomes Browser:

rs577689618

Molecular consequence:

• NM_001304482.2:c.317G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_015466.4:c.695G>A - missense variant - [Sequence Ontology: SO:0001583]