ClinVar

NM_002658.6(PLAU):c.827T>C (p.Ile276Thr)

Genes:

LOC126860960:BRD4-independent group 4 enhancer GRCh37_chr10:75672789-75673988 [Gene]
C10orf55:chromosome 10 putative open reading frame 55 [Gene - HGNC]
PLAU:plasminogen activator, urokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q22.2

Genomic location:

• Chr10: 73914126 (on Assembly GRCh38)
• Chr10: 75673884 (on Assembly GRCh37)

Preferred name:

NM_002658.6(PLAU):c.827T>C (p.Ile276Thr)

HGVS:

• NC_000010.11:g.73914126T>C
• NG_011904.1:g.8023T>C
• NG_085459.2:g.1196T>C
• NM_001145031.3:c.776T>C
• NM_001319191.2:c.569T>C
• NM_002658.6:c.827T>CMANE SELECT
• NP_001138503.1:p.Ile259Thr
• NP_001138503.2:p.Ile259Thr
• NP_001306120.2:p.Ile190Thr
• NP_002649.1:p.Ile276Thr
• NP_002649.2:p.Ile276Thr
• LRG_593t1:c.827T>C
• LRG_593t2:c.776T>C
• LRG_593:g.8023T>C
• LRG_593p1:p.Ile276Thr
• LRG_593p2:p.Ile259Thr
• NC_000010.10:g.75673884T>C
• NM_001145031.1:c.776T>C
• NM_002658.3:c.827T>C

This HGVS expression did not pass validation

Protein change:

I190T

Molecular consequence:

• NM_001145031.3:c.776T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001319191.2:c.569T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_002658.6:c.827T>C - missense variant - [Sequence Ontology: SO:0001583]