ClinVar

NM_006329.4(FBLN5):c.1235G>A (p.Gly412Glu)

Gene:

FBLN5:fibulin 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q32.12

Genomic location:

• Chr14: 91870336 (on Assembly GRCh38)
• Chr14: 92336680 (on Assembly GRCh37)

Preferred name:

NM_006329.4(FBLN5):c.1235G>A (p.Gly412Glu)

HGVS:

• NC_000014.9:g.91870336C>T
• NG_008254.1:g.82367G>A
• NM_001384158.1:c.1358G>A
• NM_001384159.1:c.1286G>A
• NM_001384160.1:c.*19G>A
• NM_001384161.1:c.*19G>A
• NM_001384162.1:c.1067G>A
• NM_006329.3:c.1235G>A
• NM_006329.4:c.1235G>AMANE SELECT
• NP_001371087.1:p.Gly453Glu
• NP_001371088.1:p.Gly429Glu
• NP_001371091.1:p.Gly356Glu
• NP_006320.2:p.Gly412Glu
• LRG_364t1:c.1235G>A
• LRG_364:g.82367G>A
• NC_000014.8:g.92336680C>T
• Q9UBX5:p.Gly412Glu

This HGVS expression did not pass validation

Protein change:

G356E; GLY412GLU

Links:

UniProtKB: Q9UBX5#VAR_019820; OMIM: 604580.0009; dbSNP: rs121434303

NCBI 1000 Genomes Browser:

rs121434303

Molecular consequence:

• NM_001384160.1:c.*19G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001384161.1:c.*19G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001384158.1:c.1358G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384159.1:c.1286G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384162.1:c.1067G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_006329.4:c.1235G>A - missense variant - [Sequence Ontology: SO:0001583]