ClinVar

NM_001114753.3(ENG):c.760C>T (p.Gln254Ter)

Gene:

ENG:endoglin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.11

Genomic location:

• Chr9: 127825287 (on Assembly GRCh38)
• Chr9: 130587566 (on Assembly GRCh37)

Preferred name:

NM_001114753.3(ENG):c.760C>T (p.Gln254Ter)

HGVS:

• NC_000009.12:g.127825287G>A
• NG_009551.1:g.34482C>T
• NM_000118.4:c.760C>T
• NM_001114753.3:c.760C>TMANE SELECT
• NM_001278138.2:c.214C>T
• NM_001406715.1:c.760C>T
• NP_000109.1:p.Gln254Ter
• NP_000109.1:p.Gln254Ter
• NP_001108225.1:p.Gln254Ter
• NP_001108225.1:p.Gln254Ter
• NP_001265067.1:p.Gln72Ter
• NP_001393644.1:p.Gln254Ter
• LRG_589t1:c.760C>T
• LRG_589t2:c.760C>T
• LRG_589:g.34482C>T
• LRG_589p1:p.Gln254Ter
• LRG_589p2:p.Gln254Ter
• NC_000009.11:g.130587566G>A
• NM_000118.3:c.760C>T
• NM_001114753.2:c.760C>T
• p.Gln254*

This HGVS expression did not pass validation

Protein change:

Q254*

Links:

dbSNP: rs1554810234

NCBI 1000 Genomes Browser:

rs1554810234

Molecular consequence:

• NM_000118.4:c.760C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001114753.3:c.760C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001278138.2:c.214C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001406715.1:c.760C>T - nonsense - [Sequence Ontology: SO:0001587]