ClinVar

NM_001114753.3(ENG):c.1240A>T (p.Met414Leu)

Genes:

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

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.11

Genomic location:

• Chr9: 127819932 (on Assembly GRCh38)
• Chr9: 130582211 (on Assembly GRCh37)

Preferred name:

NM_001114753.3(ENG):c.1240A>T (p.Met414Leu)

HGVS:

• NC_000009.12:g.127819932T>A
• NG_009551.1:g.39837A>T
• NM_000118.4:c.1240A>T
• NM_001114753.3:c.1240A>TMANE SELECT
• NM_001278138.2:c.694A>T
• NP_000109.1:p.Met414Leu
• NP_000109.1:p.Met414Leu
• NP_001108225.1:p.Met414Leu
• NP_001108225.1:p.Met414Leu
• NP_001265067.1:p.Met232Leu
• LRG_589t1:c.1240A>T
• LRG_589t2:c.1240A>T
• LRG_589:g.39837A>T
• LRG_589p1:p.Met414Leu
• LRG_589p2:p.Met414Leu
• NC_000009.11:g.130582211T>A
• NM_000118.3:c.1240A>T
• NM_001114753.2:c.1240A>T
• p.Met414Leu

This HGVS expression did not pass validation

Protein change:

M232L

Links:

dbSNP: rs2131879141

NCBI 1000 Genomes Browser:

rs2131879141

Molecular consequence:

• NM_000118.4:c.1240A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001114753.3:c.1240A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001278138.2:c.694A>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1