ClinVar

NM_006329.4(FBLN5):c.1251G>T (p.Gln417His)

Gene:

FBLN5:fibulin 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q32.12

Genomic location:

• Chr14: 91870320 (on Assembly GRCh38)
• Chr14: 92336664 (on Assembly GRCh37)

Preferred name:

NM_006329.4(FBLN5):c.1251G>T (p.Gln417His)

HGVS:

• NC_000014.9:g.91870320C>A
• NG_008254.1:g.82383G>T
• NM_001384158.1:c.1374G>T
• NM_001384159.1:c.1302G>T
• NM_001384160.1:c.*35G>T
• NM_001384161.1:c.*35G>T
• NM_001384162.1:c.1083G>T
• NM_006329.4:c.1251G>TMANE SELECT
• NP_001371087.1:p.Gln458His
• NP_001371088.1:p.Gln434His
• NP_001371091.1:p.Gln361His
• NP_006320.2:p.Gln417His
• NP_006320.2:p.Gln417His
• LRG_364t1:c.1251G>T
• LRG_364:g.82383G>T
• LRG_364p1:p.Gln417His
• NC_000014.8:g.92336664C>A
• NM_006329.3:c.1251G>T

This HGVS expression did not pass validation

Protein change:

Q361H

Molecular consequence:

• NM_001384160.1:c.*35G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001384161.1:c.*35G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001384158.1:c.1374G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384159.1:c.1302G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384162.1:c.1083G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_006329.4:c.1251G>T - missense variant - [Sequence Ontology: SO:0001583]