ClinVar

NM_000138.5(FBN1):c.5280T>A (p.Tyr1760Ter)

Gene:

FBN1:fibrillin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q21.1

Genomic location:

• Chr15: 48460262 (on Assembly GRCh38)
• Chr15: 48752459 (on Assembly GRCh37)

Preferred name:

NM_000138.5(FBN1):c.5280T>A (p.Tyr1760Ter)

HGVS:

• NC_000015.10:g.48460262A>T
• NG_008805.2:g.190527T>A
• NM_000138.5:c.5280T>AMANE SELECT
• NP_000129.3:p.Tyr1760Ter
• NP_000129.3:p.Tyr1760Ter
• LRG_778t1:c.5280T>A
• LRG_778:g.190527T>A
• LRG_778p1:p.Tyr1760Ter
• NC_000015.9:g.48752459A>T
• NM_000138.4:c.5280T>A

This HGVS expression did not pass validation

Protein change:

Y1760*

Links:

dbSNP: rs730880103

NCBI 1000 Genomes Browser:

rs730880103

Molecular consequence:

• NM_000138.5:c.5280T>A - nonsense - [Sequence Ontology: SO:0001587]

Observations:

1