ClinVar

NM_001114753.3(ENG):c.1510G>A (p.Val504Met)

Genes:

ENG:endoglin [Gene - OMIM - HGNC]
LOC102723566:uncharacterized LOC102723566 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.11

Genomic location:

• Chr9: 127818296 (on Assembly GRCh38)
• Chr9: 130580575 (on Assembly GRCh37)

Preferred name:

NM_001114753.3(ENG):c.1510G>A (p.Val504Met)

Other names:

NM_001114753.3(ENG):c.1510G>A

HGVS:

• NC_000009.12:g.127818296C>T
• NG_009551.1:g.41473G>A
• NM_000118.4:c.1510G>A
• NM_001114753.3:c.1510G>AMANE SELECT
• NM_001278138.2:c.964G>A
• NP_000109.1:p.Val504Met
• NP_000109.1:p.Val504Met
• NP_001108225.1:p.Val504Met
• NP_001108225.1:p.Val504Met
• NP_001265067.1:p.Val322Met
• LRG_589t1:c.1510G>A
• LRG_589t2:c.1510G>A
• LRG_589:g.41473G>A
• LRG_589p1:p.Val504Met
• LRG_589p2:p.Val504Met
• NC_000009.11:g.130580575C>T
• NM_000118.2:c.1510G>A
• NM_000118.3:c.1510G>A
• NM_001114753.1:c.1510G>A
• NM_001114753.2:c.1510G>A
• P17813:p.Val504Met

This HGVS expression did not pass validation

Protein change:

V322M

Links:

UniProtKB: P17813#VAR_026782; dbSNP: rs116330805

NCBI 1000 Genomes Browser:

rs116330805

Molecular consequence:

• NM_000118.4:c.1510G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001114753.3:c.1510G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001278138.2:c.964G>A - missense variant - [Sequence Ontology: SO:0001583]