ClinVar

NM_207122.2(EXT2):c.484C>T (p.Gln162Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p11.2

Genomic location:

• Chr11: 44108196 (on Assembly GRCh38)
• Chr11: 44129746 (on Assembly GRCh37)

Preferred name:

NM_207122.2(EXT2):c.484C>T (p.Gln162Ter)

HGVS:

• NC_000011.10:g.44108196C>T
• NG_007560.1:g.17648C>T
• NM_000401.3:c.583C>T
• NM_001178083.3:c.484C>T
• NM_207122.2:c.484C>TMANE SELECT
• NP_000392.3:p.Gln195Ter
• NP_001171554.1:p.Gln162Ter
• NP_997005.1:p.Gln162Ter
• LRG_494t1:c.583C>T
• LRG_494:g.17648C>T
• LRG_494p1:p.Gln195Ter
• NC_000011.9:g.44129746C>T

This HGVS expression did not pass validation

Protein change:

Q162*

Links:

dbSNP: rs2134968489

NCBI 1000 Genomes Browser:

rs2134968489

Molecular consequence:

• NM_000401.3:c.583C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001178083.3:c.484C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_207122.2:c.484C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

2