ClinVar

NM_001114753.3(ENG):c.7C>T (p.Arg3Cys)

Gene:

ENG:endoglin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.11

Genomic location:

• Chr9: 127854349 (on Assembly GRCh38)
• Chr9: 130616628 (on Assembly GRCh37)

Preferred name:

NM_001114753.3(ENG):c.7C>T (p.Arg3Cys)

HGVS:

• NC_000009.12:g.127854349G>A
• NG_009551.1:g.5420C>T
• NM_000118.4:c.7C>T
• NM_001114753.3:c.7C>TMANE SELECT
• NM_001406715.1:c.7C>T
• NP_000109.1:p.Arg3Cys
• NP_000109.1:p.Arg3Cys
• NP_001108225.1:p.Arg3Cys
• NP_001108225.1:p.Arg3Cys
• NP_001393644.1:p.Arg3Cys
• LRG_589t1:c.7C>T
• LRG_589t2:c.7C>T
• LRG_589:g.5420C>T
• LRG_589p1:p.Arg3Cys
• LRG_589p2:p.Arg3Cys
• NC_000009.11:g.130616628G>A
• NM_000118.2:c.7C>T
• NM_000118.3:c.7C>T
• NM_001114753.1:c.7C>T
• NM_001114753.2:c.7C>T

This HGVS expression did not pass validation

Protein change:

R3C

Links:

dbSNP: rs139334561

NCBI 1000 Genomes Browser:

rs139334561

Molecular consequence:

• NM_000118.4:c.7C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001114753.3:c.7C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406715.1:c.7C>T - missense variant - [Sequence Ontology: SO:0001583]