ClinVar

NM_001114753.3(ENG):c.67+254A>G

Gene:

ENG:endoglin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.11

Genomic location:

• Chr9: 127854035 (on Assembly GRCh38)
• Chr9: 130616314 (on Assembly GRCh37)

Preferred name:

NM_001114753.3(ENG):c.67+254A>G

HGVS:

• NC_000009.12:g.127854035T>C
• NG_009551.1:g.5734A>G
• NG_117589.1:g.146T>C
• NM_000118.4:c.67+254A>G
• NM_001114753.3:c.67+254A>GMANE SELECT
• NM_001406715.1:c.67+254A>G
• LRG_589:g.5734A>G
• NC_000009.11:g.130616314T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs143016113

NCBI 1000 Genomes Browser:

rs143016113

Molecular consequence:

• NM_000118.4:c.67+254A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001114753.3:c.67+254A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001406715.1:c.67+254A>G - intron variant - [Sequence Ontology: SO:0001627]