ClinVar

NM_001114753.3(ENG):c.596G>A (p.Arg199His)

Gene:

ENG:endoglin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.11

Genomic location:

• Chr9: 127825788 (on Assembly GRCh38)
• Chr9: 130588067 (on Assembly GRCh37)

Preferred name:

NM_001114753.3(ENG):c.596G>A (p.Arg199His)

HGVS:

• NC_000009.12:g.127825788C>T
• NG_009551.1:g.33981G>A
• NM_000118.4:c.596G>A
• NM_001114753.3:c.596G>AMANE SELECT
• NM_001278138.2:c.50G>A
• NM_001406715.1:c.596G>A
• NP_000109.1:p.Arg199His
• NP_000109.1:p.Arg199His
• NP_001108225.1:p.Arg199His
• NP_001108225.1:p.Arg199His
• NP_001265067.1:p.Arg17His
• NP_001265067.1:p.Arg17His
• NP_001393644.1:p.Arg199His
• LRG_589t1:c.596G>A
• LRG_589t2:c.596G>A
• LRG_589:g.33981G>A
• LRG_589p1:p.Arg199His
• LRG_589p2:p.Arg199His
• NC_000009.11:g.130588067C>T
• NM_000118.3:c.596G>A
• NM_001114753.2:c.596G>A
• NM_001278138.1:c.50G>A

This HGVS expression did not pass validation

Protein change:

R17H

Links:

dbSNP: rs548424658

NCBI 1000 Genomes Browser:

rs548424658

Molecular consequence:

• NM_000118.4:c.596G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001114753.3:c.596G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001278138.2:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406715.1:c.596G>A - missense variant - [Sequence Ontology: SO:0001583]