ClinVar

NM_000138.5(FBN1):c.6629G>A (p.Cys2210Tyr)

Gene:

FBN1:fibrillin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q21.1

Genomic location:

• Chr15: 48432976 (on Assembly GRCh38)
• Chr15: 48725173 (on Assembly GRCh37)

Preferred name:

NM_000138.5(FBN1):c.6629G>A (p.Cys2210Tyr)

HGVS:

• NC_000015.10:g.48432976C>T
• NG_008805.2:g.217813G>A
• NM_000138.5:c.6629G>AMANE SELECT
• NP_000129.3:p.Cys2210Tyr
• LRG_778t1:c.6629G>A
• LRG_778:g.217813G>A
• NC_000015.9:g.48725173C>T
• NC_000015.9:g.48725173C>T
• NM_000138.4:c.6629G>A

This HGVS expression did not pass validation

Protein change:

C2210Y

Links:

dbSNP: rs2141235242

NCBI 1000 Genomes Browser:

rs2141235242

Molecular consequence:

• NM_000138.5:c.6629G>A - missense variant - [Sequence Ontology: SO:0001583]