ClinVar

NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys)

Gene:

FBN1:fibrillin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q21.1

Genomic location:

• Chr15: 48505037 (on Assembly GRCh38)
• Chr15: 48797234 (on Assembly GRCh37)

Preferred name:

NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys)

HGVS:

• NC_000015.10:g.48505037G>A
• NG_008805.2:g.145752C>T
• NM_000138.5:c.1948C>TMANE SELECT
• NP_000129.3:p.Arg650Cys
• NP_000129.3:p.Arg650Cys
• LRG_778t1:c.1948C>T
• LRG_778:g.145752C>T
• LRG_778p1:p.Arg650Cys
• NC_000015.9:g.48797234G>A
• NM_000138.4:c.1948C>T

This HGVS expression did not pass validation

Protein change:

R650C

Links:

dbSNP: rs193922185

NCBI 1000 Genomes Browser:

rs193922185

Molecular consequence:

• NM_000138.5:c.1948C>T - missense variant - [Sequence Ontology: SO:0001583]