ClinVar

NM_001114753.3(ENG):c.1092C>T (p.Ala364=)

Gene:

ENG:endoglin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.11

Genomic location:

• Chr9: 127824346 (on Assembly GRCh38)
• Chr9: 130586625 (on Assembly GRCh37)

Preferred name:

NM_001114753.3(ENG):c.1092C>T (p.Ala364=)

HGVS:

• NC_000009.12:g.127824346G>A
• NG_009551.1:g.35423C>T
• NM_000118.4:c.1092C>T
• NM_001114753.3:c.1092C>TMANE SELECT
• NM_001278138.2:c.546C>T
• NM_001406715.1:c.1092C>T
• NP_000109.1:p.Ala364=
• NP_000109.1:p.Ala364=
• NP_001108225.1:p.Ala364=
• NP_001108225.1:p.Ala364=
• NP_001265067.1:p.Ala182=
• NP_001393644.1:p.Ala364=
• LRG_589t1:c.1092C>T
• LRG_589t2:c.1092C>T
• LRG_589:g.35423C>T
• LRG_589p1:p.Ala364=
• LRG_589p2:p.Ala364=
• NC_000009.11:g.130586625G>A
• NM_000118.3:c.1092C>T
• NM_001114753.1:c.1092C>T
• NM_001114753.2:c.1092C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs375427398

NCBI 1000 Genomes Browser:

rs375427398

Molecular consequence:

• NM_000118.4:c.1092C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001114753.3:c.1092C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001278138.2:c.546C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001406715.1:c.1092C>T - synonymous variant - [Sequence Ontology: SO:0001819]