ClinVar

NM_001114753.3(ENG):c.618C>A (p.Gly206=)

Gene:

ENG:endoglin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.11

Genomic location:

• Chr9: 127825766 (on Assembly GRCh38)
• Chr9: 130588045 (on Assembly GRCh37)

Preferred name:

NM_001114753.3(ENG):c.618C>A (p.Gly206=)

HGVS:

• NC_000009.12:g.127825766G>T
• NG_009551.1:g.34003C>A
• NM_000118.4:c.618C>A
• NM_001114753.3:c.618C>AMANE SELECT
• NM_001278138.2:c.72C>A
• NM_001406715.1:c.618C>A
• NP_000109.1:p.Gly206=
• NP_000109.1:p.Gly206=
• NP_001108225.1:p.Gly206=
• NP_001108225.1:p.Gly206=
• NP_001265067.1:p.Gly24=
• NP_001393644.1:p.Gly206=
• LRG_589t1:c.618C>A
• LRG_589t2:c.618C>A
• LRG_589:g.34003C>A
• LRG_589p1:p.Gly206=
• LRG_589p2:p.Gly206=
• NC_000009.11:g.130588045G>T
• NM_000118.3:c.618C>A
• NM_001114753.2:c.618C>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1830599217

NCBI 1000 Genomes Browser:

rs1830599217

Molecular consequence:

• NM_000118.4:c.618C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001114753.3:c.618C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001278138.2:c.72C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001406715.1:c.618C>A - synonymous variant - [Sequence Ontology: SO:0001819]