ClinVar

NM_001114753.3(ENG):c.142C>T (p.Gln48Ter)

Gene:

ENG:endoglin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.11

Genomic location:

• Chr9: 127843171 (on Assembly GRCh38)
• Chr9: 130605450 (on Assembly GRCh37)

Preferred name:

NM_001114753.3(ENG):c.142C>T (p.Gln48Ter)

Other names:

p.Gln48*

HGVS:

• NC_000009.12:g.127843171G>A
• NG_009551.1:g.16598C>T
• NM_000118.4:c.142C>T
• NM_001114753.3:c.142C>TMANE SELECT
• NM_001278138.2:c.-405C>T
• NM_001406715.1:c.142C>T
• NP_000109.1:p.Gln48Ter
• NP_000109.1:p.Gln48Ter
• NP_001108225.1:p.Gln48Ter
• NP_001108225.1:p.Gln48Ter
• NP_001393644.1:p.Gln48Ter
• LRG_589t1:c.142C>T
• LRG_589t2:c.142C>T
• LRG_589:g.16598C>T
• LRG_589p1:p.Gln48Ter
• LRG_589p2:p.Gln48Ter
• NC_000009.11:g.130605450G>A
• NM_000118.3:c.142C>T
• NM_001114753.2:c.142C>T

This HGVS expression did not pass validation

Protein change:

Q48*

Links:

dbSNP: rs1831082433

NCBI 1000 Genomes Browser:

rs1831082433

Molecular consequence:

• NM_001278138.2:c.-405C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000118.4:c.142C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001114753.3:c.142C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001406715.1:c.142C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

2