ClinVar

NM_000138.5(FBN1):c.4163G>C (p.Arg1388Pro)

Gene:

FBN1:fibrillin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q21.1

Genomic location:

• Chr15: 48474302 (on Assembly GRCh38)
• Chr15: 48766499 (on Assembly GRCh37)

Preferred name:

NM_000138.5(FBN1):c.4163G>C (p.Arg1388Pro)

HGVS:

• NC_000015.10:g.48474302C>G
• NG_008805.2:g.176487G>C
• NM_000138.5:c.4163G>CMANE SELECT
• NP_000129.3:p.Arg1388Pro
• NP_000129.3:p.Arg1388Pro
• LRG_778t1:c.4163G>C
• LRG_778:g.176487G>C
• LRG_778p1:p.Arg1388Pro
• NC_000015.9:g.48766499C>G
• NM_000138.4:c.4163G>C

This HGVS expression did not pass validation

Protein change:

R1388P

Links:

dbSNP: rs749196340

NCBI 1000 Genomes Browser:

rs749196340

Molecular consequence:

• NM_000138.5:c.4163G>C - missense variant - [Sequence Ontology: SO:0001583]