ClinVar

NM_000138.5(FBN1):c.1825C>T (p.Arg609Cys)

Gene:

FBN1:fibrillin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q21.1

Genomic location:

• Chr15: 48508594 (on Assembly GRCh38)
• Chr15: 48800791 (on Assembly GRCh37)

Preferred name:

NM_000138.5(FBN1):c.1825C>T (p.Arg609Cys)

Other names:

NM_000138.5(FBN1):c.1825C>T

HGVS:

• NC_000015.10:g.48508594G>A
• NG_008805.2:g.142195C>T
• NM_000138.5:c.1825C>TMANE SELECT
• NP_000129.3:p.Arg609Cys
• NP_000129.3:p.Arg609Cys
• LRG_778t1:c.1825C>T
• LRG_778:g.142195C>T
• LRG_778p1:p.Arg609Cys
• NC_000015.9:g.48800791G>A
• NM_000138.4:c.1825C>T

This HGVS expression did not pass validation

Protein change:

R609C

Links:

dbSNP: rs772574901

NCBI 1000 Genomes Browser:

rs772574901

Molecular consequence:

• NM_000138.5:c.1825C>T - missense variant - [Sequence Ontology: SO:0001583]