ClinVar

NM_000138.5(FBN1):c.3668G>A (p.Cys1223Tyr)

Gene:

FBN1:fibrillin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q21.1

Genomic location:

• Chr15: 48485418 (on Assembly GRCh38)
• Chr15: 48777615 (on Assembly GRCh37)

Preferred name:

NM_000138.5(FBN1):c.3668G>A (p.Cys1223Tyr)

HGVS:

• NC_000015.10:g.48485418C>T
• NG_008805.2:g.165371G>A
• NM_000138.5:c.3668G>AMANE SELECT
• NP_000129.3:p.Cys1223Tyr
• NP_000129.3:p.Cys1223Tyr
• LRG_778t1:c.3668G>A
• LRG_778:g.165371G>A
• LRG_778p1:p.Cys1223Tyr
• NC_000015.9:g.48777615C>T
• NM_000138.4:c.3668G>A

This HGVS expression did not pass validation

Protein change:

C1223Y; CYS1223TYR

Links:

OMIM: 134797.0022; dbSNP: rs137854469

NCBI 1000 Genomes Browser:

rs137854469

Molecular consequence:

• NM_000138.5:c.3668G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1