ClinVar

NM_000138.5(FBN1):c.3069G>A (p.Lys1023=)

Gene:

FBN1:fibrillin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q21.1

Genomic location:

• Chr15: 48489864 (on Assembly GRCh38)
• Chr15: 48782061 (on Assembly GRCh37)

Preferred name:

NM_000138.5(FBN1):c.3069G>A (p.Lys1023=)

HGVS:

• NC_000015.10:g.48489864C>T
• NG_008805.2:g.160925G>A
• NM_000138.5:c.3069G>AMANE SELECT
• NP_000129.3:p.Lys1023=
• NP_000129.3:p.Lys1023=
• LRG_778t1:c.3069G>A
• LRG_778:g.160925G>A
• LRG_778p1:p.Lys1023=
• NC_000015.9:g.48782061C>T
• NM_000138.4:c.3069G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs199789628

NCBI 1000 Genomes Browser:

rs199789628

Molecular consequence:

• NM_000138.5:c.3069G>A - synonymous variant - [Sequence Ontology: SO:0001819]