ClinVar

NM_001114753.3(ENG):c.1019C>T (p.Pro340Leu)

Gene:

ENG:endoglin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.11

Genomic location:

• Chr9: 127824419 (on Assembly GRCh38)
• Chr9: 130586698 (on Assembly GRCh37)

Preferred name:

NM_001114753.3(ENG):c.1019C>T (p.Pro340Leu)

HGVS:

• NC_000009.12:g.127824419G>A
• NG_009551.1:g.35350C>T
• NM_000118.4:c.1019C>T
• NM_001114753.3:c.1019C>TMANE SELECT
• NM_001278138.2:c.473C>T
• NM_001406715.1:c.1019C>T
• NP_000109.1:p.Pro340Leu
• NP_000109.1:p.Pro340Leu
• NP_001108225.1:p.Pro340Leu
• NP_001108225.1:p.Pro340Leu
• NP_001265067.1:p.Pro158Leu
• NP_001393644.1:p.Pro340Leu
• LRG_589t1:c.1019C>T
• LRG_589t2:c.1019C>T
• LRG_589:g.35350C>T
• LRG_589p1:p.Pro340Leu
• LRG_589p2:p.Pro340Leu
• NC_000009.11:g.130586698G>A
• NM_000118.3:c.1019C>T
• NM_001114753.2:c.1019C>T

This HGVS expression did not pass validation

Protein change:

P158L

Links:

dbSNP: rs772135786

NCBI 1000 Genomes Browser:

rs772135786

Molecular consequence:

• NM_000118.4:c.1019C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001114753.3:c.1019C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001278138.2:c.473C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406715.1:c.1019C>T - missense variant - [Sequence Ontology: SO:0001583]