ClinVar

NM_000138.5(FBN1):c.8363C>T (p.Thr2788Met)

Gene:

FBN1:fibrillin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q21.1

Genomic location:

• Chr15: 48411243 (on Assembly GRCh38)
• Chr15: 48703440 (on Assembly GRCh37)

Preferred name:

NM_000138.5(FBN1):c.8363C>T (p.Thr2788Met)

Other names:

NM_000138.4(FBN1):c.8363C>T; p.Thr2788Met

HGVS:

• NC_000015.10:g.48411243G>A
• NG_008805.2:g.239546C>T
• NM_000138.5:c.8363C>TMANE SELECT
• NP_000129.3:p.Thr2788Met
• NP_000129.3:p.Thr2788Met
• LRG_778t1:c.8363C>T
• LRG_778:g.239546C>T
• LRG_778p1:p.Thr2788Met
• NC_000015.9:g.48703440G>A
• NM_000138.4:c.8363C>T

This HGVS expression did not pass validation

Protein change:

T2788M

Links:

dbSNP: rs143007898

NCBI 1000 Genomes Browser:

rs143007898

Molecular consequence:

• NM_000138.5:c.8363C>T - missense variant - [Sequence Ontology: SO:0001583]