ClinVar

NM_001114753.3(ENG):c.388C>T (p.Pro130Ser)

Gene:

ENG:endoglin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.11

Genomic location:

• Chr9: 127826645 (on Assembly GRCh38)
• Chr9: 130588924 (on Assembly GRCh37)

Preferred name:

NM_001114753.3(ENG):c.388C>T (p.Pro130Ser)

HGVS:

• NC_000009.12:g.127826645G>A
• NG_009551.1:g.33124C>T
• NM_000118.4:c.388C>T
• NM_001114753.3:c.388C>TMANE SELECT
• NM_001278138.2:c.-159C>T
• NM_001406715.1:c.388C>T
• NP_000109.1:p.Pro130Ser
• NP_000109.1:p.Pro130Ser
• NP_001108225.1:p.Pro130Ser
• NP_001108225.1:p.Pro130Ser
• NP_001393644.1:p.Pro130Ser
• LRG_589t1:c.388C>T
• LRG_589t2:c.388C>T
• LRG_589:g.33124C>T
• LRG_589p1:p.Pro130Ser
• LRG_589p2:p.Pro130Ser
• NC_000009.11:g.130588924G>A
• NM_000118.3:c.388C>T
• NM_001114753.1:c.388C>T
• NM_001114753.2:c.388C>T

This HGVS expression did not pass validation

Protein change:

P130S

Links:

dbSNP: rs199840979

NCBI 1000 Genomes Browser:

rs199840979

Molecular consequence:

• NM_001278138.2:c.-159C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000118.4:c.388C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001114753.3:c.388C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406715.1:c.388C>T - missense variant - [Sequence Ontology: SO:0001583]