ClinVar

NM_006329.4(FBLN5):c.1179C>T (p.Tyr393=)

Gene:

FBLN5:fibulin 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q32.12

Genomic location:

• Chr14: 91877493 (on Assembly GRCh38)
• Chr14: 92343837 (on Assembly GRCh37)

Preferred name:

NM_006329.4(FBLN5):c.1179C>T (p.Tyr393=)

HGVS:

• NC_000014.9:g.91877493G>A
• NG_008254.1:g.75210C>T
• NM_001384158.1:c.1302C>T
• NM_001384159.1:c.1230C>T
• NM_001384160.1:c.1179C>T
• NM_001384161.1:c.1011C>T
• NM_001384162.1:c.1011C>T
• NM_006329.4:c.1179C>TMANE SELECT
• NP_001371087.1:p.Tyr434=
• NP_001371088.1:p.Tyr410=
• NP_001371089.1:p.Tyr393=
• NP_001371090.1:p.Tyr337=
• NP_001371091.1:p.Tyr337=
• NP_006320.2:p.Tyr393=
• NP_006320.2:p.Tyr393=
• LRG_364t1:c.1179C>T
• LRG_364:g.75210C>T
• LRG_364p1:p.Tyr393=
• NC_000014.8:g.92343837G>A
• NM_006329.3:c.1179C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001384158.1:c.1302C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001384159.1:c.1230C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001384160.1:c.1179C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001384161.1:c.1011C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001384162.1:c.1011C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_006329.4:c.1179C>T - synonymous variant - [Sequence Ontology: SO:0001819]