ClinVar

NM_015967.8(PTPN22):c.2081C>A (p.Pro694Gln)

Genes:

AP4B1-AS1:AP4B1 antisense RNA 1 [Gene - HGNC]
PTPN22:protein tyrosine phosphatase non-receptor type 22 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p13.2

Genomic location:

• Chr1: 113830002 (on Assembly GRCh38)
• Chr1: 114372624 (on Assembly GRCh37)

Preferred name:

NM_015967.8(PTPN22):c.2081C>A (p.Pro694Gln)

HGVS:

• NC_000001.11:g.113830002G>T
• NG_011432.1:g.46752C>A
• NG_011432.2:g.46757C>A
• NM_001193431.3:c.1997C>A
• NM_001308297.2:c.2009C>A
• NM_012411.6:c.1916C>A
• NM_015967.8:c.2081C>AMANE SELECT
• NP_001180360.1:p.Pro666Gln
• NP_001180360.2:p.Pro666Gln
• NP_001295226.1:p.Pro670Gln
• NP_001295226.2:p.Pro670Gln
• NP_036543.4:p.Pro639Gln
• NP_036543.5:p.Pro639Gln
• NP_057051.4:p.Pro694Gln
• NC_000001.10:g.114372624G>T
• NM_001193431.2:c.1997C>A
• NM_001308297.1:c.2009C>A
• NM_012411.5:c.1916C>A
• NM_015967.5:c.2081C>A

This HGVS expression did not pass validation

Protein change:

P639Q

Molecular consequence:

• NM_001193431.3:c.1997C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001308297.2:c.2009C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_012411.6:c.1916C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_015967.8:c.2081C>A - missense variant - [Sequence Ontology: SO:0001583]