1:114372335-114372335 A > -

Classification

Category 5 curation
CMH MAF 691 / 12104 samples (5.71%)
295 het., 396 hom. (42.7%)
1087 / 24208 total alleles (4.49%)

gene: PTPN22 synonym(s): LYP, LYP1, LYP2, PEP, PTPN8, PTPN22, ENSG00000134242

OMIM
OMIM:600716: PTPN22
OMIM:222100: {Diabetes, type 1, susceptibility to}
OMIM:180300: {Rheumatoid arthritis, susceptibility to}
OMIM:152700: {Systemic lupus erythematosus susceptibility to}

ENST00000359785.5 [intron]
hgvs_c: ENST00000359785.5:c.2135-4del
splice impact: polypyrimidine_tract
protein sequence: ENSP00000352833.5

gene: TRNAN-GUU synonym(s): TRNAN-GUU

TRNAN-GUU [intron]
curated_classification = 5