ClinVar

NM_015967.8(PTPN22):c.2359+11T>C

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: 113819566 (on Assembly GRCh38)
• Chr1: 114362188 (on Assembly GRCh37)

Preferred name:

NM_015967.8(PTPN22):c.2359+11T>C

HGVS:

• NC_000001.11:g.113819566A>G
• NG_011432.1:g.57188T>C
• NG_011432.2:g.57193T>C
• NM_001193431.2:c.2275+11T>C
• NM_001308297.1:c.2287+11T>C
• NM_012411.5:c.2194+11T>C
• NM_015967.8:c.2359+11T>CMANE SELECT
• NC_000001.10:g.114362188A>G

This HGVS expression did not pass validation

Molecular consequence:

• NM_001193431.2:c.2275+11T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001308297.1:c.2287+11T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_012411.5:c.2194+11T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_015967.8:c.2359+11T>C - intron variant - [Sequence Ontology: SO:0001627]

Observations:

1