ClinVar

NM_000138.5(FBN1):c.6342A>C (p.Gly2114=)

Gene:

FBN1:fibrillin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q21.1

Genomic location:

• Chr15: 48437359 (on Assembly GRCh38)
• Chr15: 48729556 (on Assembly GRCh37)

Preferred name:

NM_000138.5(FBN1):c.6342A>C (p.Gly2114=)

HGVS:

• NC_000015.10:g.48437359T>G
• NG_008805.2:g.213430A>C
• NM_000138.5:c.6342A>CMANE SELECT
• NP_000129.3:p.Gly2114=
• NP_000129.3:p.Gly2114=
• LRG_778t1:c.6342A>C
• LRG_778:g.213430A>C
• LRG_778p1:p.Gly2114=
• NC_000015.9:g.48729556T>G
• NM_000138.4:c.6342A>C

This HGVS expression did not pass validation

Links:

dbSNP: rs374705586

NCBI 1000 Genomes Browser:

rs374705586

Molecular consequence:

• NM_000138.5:c.6342A>C - synonymous variant - [Sequence Ontology: SO:0001819]