ClinVar

NM_000138.5(FBN1):c.4582+1G>A

Gene:

FBN1:fibrillin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q21.1

Genomic location:

• Chr15: 48468411 (on Assembly GRCh38)
• Chr15: 48760608 (on Assembly GRCh37)

Preferred name:

NM_000138.5(FBN1):c.4582+1G>A

HGVS:

• NC_000015.10:g.48468411C>T
• NG_008805.2:g.182378G>A
• NM_000138.5:c.4582+1G>AMANE SELECT
• NM_001406716.1:c.4582+1G>A
• LRG_778t1:c.4582+1G>A
• LRG_778:g.182378G>A
• NC_000015.9:g.48760608C>T
• NM_000138.4:c.4582+1G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1555397195

NCBI 1000 Genomes Browser:

rs1555397195

Molecular consequence:

• NM_000138.5:c.4582+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001406716.1:c.4582+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]