ClinVar

NM_006329.4(FBLN5):c.1090G>A (p.Asp364Asn)

Gene:

FBLN5:fibulin 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q32.12

Genomic location:

• Chr14: 91877582 (on Assembly GRCh38)
• Chr14: 92343926 (on Assembly GRCh37)

Preferred name:

NM_006329.4(FBLN5):c.1090G>A (p.Asp364Asn)

HGVS:

• NC_000014.9:g.91877582C>T
• NG_008254.1:g.75121G>A
• NM_001384158.1:c.1213G>A
• NM_001384159.1:c.1141G>A
• NM_001384160.1:c.1090G>A
• NM_001384161.1:c.922G>A
• NM_001384162.1:c.922G>A
• NM_006329.4:c.1090G>AMANE SELECT
• NP_001371087.1:p.Asp405Asn
• NP_001371088.1:p.Asp381Asn
• NP_001371089.1:p.Asp364Asn
• NP_001371090.1:p.Asp308Asn
• NP_001371091.1:p.Asp308Asn
• NP_006320.2:p.Asp364Asn
• LRG_364t1:c.1090G>A
• LRG_364:g.75121G>A
• NC_000014.8:g.92343926C>T
• NM_006329.3:c.1090G>A

This HGVS expression did not pass validation

Protein change:

D308N

Links:

dbSNP: rs1802492

NCBI 1000 Genomes Browser:

rs1802492

Molecular consequence:

• NM_001384158.1:c.1213G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384159.1:c.1141G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384160.1:c.1090G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384161.1:c.922G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384162.1:c.922G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_006329.4:c.1090G>A - missense variant - [Sequence Ontology: SO:0001583]