ClinVar

NM_000138.5(FBN1):c.5442C>T (p.Asn1814=)

Gene:

FBN1:fibrillin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q21.1

Genomic location:

• Chr15: 48452665 (on Assembly GRCh38)
• Chr15: 48744862 (on Assembly GRCh37)

Preferred name:

NM_000138.5(FBN1):c.5442C>T (p.Asn1814=)

HGVS:

• NC_000015.10:g.48452665G>A
• NG_008805.2:g.198124C>T
• NM_000138.5:c.5442C>TMANE SELECT
• NP_000129.3:p.Asn1814=
• NP_000129.3:p.Asn1814=
• LRG_778t1:c.5442C>T
• LRG_778:g.198124C>T
• LRG_778p1:p.Asn1814=
• NC_000015.9:g.48744862G>A
• NM_000138.4:c.5442C>T
• c.5442C>T
• p.Asn1814Asn

This HGVS expression did not pass validation

Links:

dbSNP: rs397515822

NCBI 1000 Genomes Browser:

rs397515822

Molecular consequence:

• NM_000138.5:c.5442C>T - synonymous variant - [Sequence Ontology: SO:0001819]