ClinVar

NM_000138.5(FBN1):c.3077T>C (p.Phe1026Ser)

Gene:

FBN1:fibrillin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q21.1

Genomic location:

• Chr15: 48489856 (on Assembly GRCh38)
• Chr15: 48782053 (on Assembly GRCh37)

Preferred name:

NM_000138.5(FBN1):c.3077T>C (p.Phe1026Ser)

Other names:

p.F1026S:TTC>TCC

HGVS:

• NC_000015.10:g.48489856A>G
• NG_008805.2:g.160933T>C
• NM_000138.5:c.3077T>CMANE SELECT
• NP_000129.3:p.Phe1026Ser
• NP_000129.3:p.Phe1026Ser
• LRG_778t1:c.3077T>C
• LRG_778:g.160933T>C
• LRG_778p1:p.Phe1026Ser
• NC_000015.9:g.48782053A>G
• NM_000138.4:c.3077T>C

This HGVS expression did not pass validation

Protein change:

F1026S

Links:

dbSNP: rs200381100

NCBI 1000 Genomes Browser:

rs200381100

Molecular consequence:

• NM_000138.5:c.3077T>C - missense variant - [Sequence Ontology: SO:0001583]