ClinVar

NM_001114753.3(ENG):c.1815G>A (p.Leu605=)

Gene:

ENG:endoglin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.11

Genomic location:

• Chr9: 127815980 (on Assembly GRCh38)
• Chr9: 130578259 (on Assembly GRCh37)

Preferred name:

NM_001114753.3(ENG):c.1815G>A (p.Leu605=)

HGVS:

• NC_000009.12:g.127815980C>T
• NG_009551.1:g.43789G>A
• NG_023245.1:g.18106C>T
• NM_000118.4:c.1815G>A
• NM_001114753.3:c.1815G>AMANE SELECT
• NM_001278138.2:c.1269G>A
• NP_000109.1:p.Leu605=
• NP_000109.1:p.Leu605=
• NP_001108225.1:p.Leu605=
• NP_001108225.1:p.Leu605=
• NP_001265067.1:p.Leu423=
• LRG_589t1:c.1815G>A
• LRG_589t2:c.1815G>A
• LRG_589:g.43789G>A
• LRG_589p1:p.Leu605=
• LRG_589p2:p.Leu605=
• NC_000009.11:g.130578259C>T
• NM_000118.3:c.1815G>A
• NM_001114753.2:c.1815G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs2131871479

NCBI 1000 Genomes Browser:

rs2131871479

Molecular consequence:

• NM_000118.4:c.1815G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001114753.3:c.1815G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001278138.2:c.1269G>A - synonymous variant - [Sequence Ontology: SO:0001819]