ClinVar

NM_006329.4(FBLN5):c.1080C>T (p.Ser360=)

Gene:

FBLN5:fibulin 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q32.12

Genomic location:

• Chr14: 91877592 (on Assembly GRCh38)
• Chr14: 92343936 (on Assembly GRCh37)

Preferred name:

NM_006329.4(FBLN5):c.1080C>T (p.Ser360=)

HGVS:

• NC_000014.9:g.91877592G>A
• NG_008254.1:g.75111C>T
• NM_001384158.1:c.1203C>T
• NM_001384159.1:c.1131C>T
• NM_001384160.1:c.1080C>T
• NM_001384161.1:c.912C>T
• NM_001384162.1:c.912C>T
• NM_006329.4:c.1080C>TMANE SELECT
• NP_001371087.1:p.Ser401=
• NP_001371088.1:p.Ser377=
• NP_001371089.1:p.Ser360=
• NP_001371090.1:p.Ser304=
• NP_001371091.1:p.Ser304=
• NP_006320.2:p.Ser360=
• LRG_364:g.75111C>T
• NC_000014.8:g.92343936G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs200255084

NCBI 1000 Genomes Browser:

rs200255084

Molecular consequence:

• NM_001384158.1:c.1203C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001384159.1:c.1131C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001384160.1:c.1080C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001384161.1:c.912C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001384162.1:c.912C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_006329.4:c.1080C>T - synonymous variant - [Sequence Ontology: SO:0001819]