ClinVar

NM_001114753.3(ENG):c.120C>T (p.Gly40=)

Gene:

ENG:endoglin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.11

Genomic location:

• Chr9: 127843193 (on Assembly GRCh38)
• Chr9: 130605472 (on Assembly GRCh37)

Preferred name:

NM_001114753.3(ENG):c.120C>T (p.Gly40=)

HGVS:

• NC_000009.12:g.127843193G>A
• NG_009551.1:g.16576C>T
• NM_000118.3:c.120C>T
• NM_001114753.2:c.120C>T
• NM_001114753.3:c.120C>TMANE SELECT
• NM_001278138.2:c.-427C>T
• NP_000109.1:p.Gly40=
• NP_001108225.1:p.Gly40=
• NP_001108225.1:p.Gly40=
• LRG_589t1:c.120C>T
• LRG_589t2:c.120C>T
• LRG_589:g.16576C>T
• LRG_589p1:p.Gly40=
• LRG_589p2:p.Gly40=
• NC_000009.11:g.130605472G>A
• NM_000118.2:c.120C>T
• NM_001114753.1:c.120C>T
• p.Gly40Gly

This HGVS expression did not pass validation

Links:

dbSNP: rs41522944

NCBI 1000 Genomes Browser:

rs41522944

Molecular consequence:

• NM_001278138.2:c.-427C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000118.3:c.120C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001114753.2:c.120C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001114753.3:c.120C>T - synonymous variant - [Sequence Ontology: SO:0001819]