ClinVar

NM_207122.2(EXT2):c.1208T>C (p.Ile403Thr)

Gene:

EXT2:exostosin glycosyltransferase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p11.2

Genomic location:

• Chr11: 44171645 (on Assembly GRCh38)
• Chr11: 44193195 (on Assembly GRCh37)

Preferred name:

NM_207122.2(EXT2):c.1208T>C (p.Ile403Thr)

HGVS:

• NC_000011.10:g.44171645T>C
• NG_007560.1:g.81097T>C
• NM_000401.3:c.1307T>C
• NM_001178083.3:c.1267-29T>C
• NM_001389628.1:c.1208T>C
• NM_001389630.1:c.1208T>C
• NM_207122.2:c.1208T>CMANE SELECT
• NP_000392.3:p.Ile436Thr
• NP_001376557.1:p.Ile403Thr
• NP_001376559.1:p.Ile403Thr
• NP_997005.1:p.Ile403Thr
• NP_997005.1:p.Ile403Thr
• LRG_494t1:c.1307T>C
• LRG_494t2:c.1208T>C
• LRG_494:g.81097T>C
• LRG_494p1:p.Ile436Thr
• LRG_494p2:p.Ile403Thr
• NC_000011.9:g.44193195T>C
• NM_207122.1:c.1208T>C

This HGVS expression did not pass validation

Protein change:

I403T

Links:

dbSNP: rs530523884

NCBI 1000 Genomes Browser:

rs530523884

Molecular consequence:

• NM_001178083.3:c.1267-29T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_000401.3:c.1307T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001389628.1:c.1208T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001389630.1:c.1208T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_207122.2:c.1208T>C - missense variant - [Sequence Ontology: SO:0001583]