ClinVar

NM_000138.5(FBN1):c.5066-12C>A

Gene:

FBN1:fibrillin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q21.1

Genomic location:

• Chr15: 48463252 (on Assembly GRCh38)
• Chr15: 48755449 (on Assembly GRCh37)

Preferred name:

NM_000138.5(FBN1):c.5066-12C>A

HGVS:

• NC_000015.10:g.48463252G>T
• NG_008805.2:g.187537C>A
• NM_000138.5:c.5066-12C>AMANE SELECT
• LRG_778t1:c.5066-12C>A
• LRG_778:g.187537C>A
• NC_000015.9:g.48755449G>T
• NC_000015.9:g.48755449G>T
• NM_000138.4:c.5066-12C>A

This HGVS expression did not pass validation

Links:

dbSNP: rs531105331

NCBI 1000 Genomes Browser:

rs531105331

Molecular consequence:

• NM_000138.5:c.5066-12C>A - intron variant - [Sequence Ontology: SO:0001627]

Observations:

2