ClinVar

NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu)

Gene:

ENG:endoglin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.11

Genomic location:

• Chr9: 127815951 (on Assembly GRCh38)
• Chr9: 130578230 (on Assembly GRCh37)

Preferred name:

NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu)

Other names:

NM_000118.3(ENG):c.1844C>T(p.Ser615Leu); NM_001114753.2(ENG):c.1844C>T(p.Ser615Leu); NM_001278138.1(ENG):c.1298C>T(p.Ser433Leu); NM_001114753.3(ENG):c.1844C>T

HGVS:

• NC_000009.12:g.127815951G>A
• NG_009551.1:g.43818C>T
• NG_023245.1:g.18077G>A
• NM_000118.4:c.1844C>T
• NM_001114753.3:c.1844C>TMANE SELECT
• NM_001278138.2:c.1298C>T
• NP_000109.1:p.Ser615Leu
• NP_000109.1:p.Ser615Leu
• NP_001108225.1:p.Ser615Leu
• NP_001108225.1:p.Ser615Leu
• NP_001265067.1:p.Ser433Leu
• LRG_589t1:c.1844C>T
• LRG_589t2:c.1844C>T
• LRG_589:g.43818C>T
• LRG_589p1:p.Ser615Leu
• LRG_589p2:p.Ser615Leu
• NC_000009.11:g.130578230G>A
• NM_000118.2:c.1844C>T
• NM_000118.3:c.1844C>T
• NM_001114753.1:c.1844C>T
• NM_001114753.2:c.1844C>T
• P17813:p.Ser615Leu

This HGVS expression did not pass validation

Protein change:

S433L

Links:

UniProtKB: P17813#VAR_026783; dbSNP: rs148002300

NCBI 1000 Genomes Browser:

rs148002300

Molecular consequence:

• NM_000118.4:c.1844C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001114753.3:c.1844C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001278138.2:c.1298C>T - missense variant - [Sequence Ontology: SO:0001583]