ClinVar

NM_013280.5(FLRT1):c.1548C>T (p.Tyr516=)

Genes:

FLRT1:fibronectin leucine rich transmembrane protein 1 [Gene - OMIM - HGNC]
MACROD1:mono-ADP ribosylhydrolase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.1

Genomic location:

• Chr11: 64117815 (on Assembly GRCh38)
• Chr11: 63885287 (on Assembly GRCh37)

Preferred name:

NM_013280.5(FLRT1):c.1548C>T (p.Tyr516=)

HGVS:

• NC_000011.10:g.64117815C>T
• NM_001384466.1:c.1548C>T
• NM_001411019.1:c.517+33424G>A
• NM_001423967.1:c.1464C>T
• NM_013280.5:c.1548C>TMANE SELECT
• NM_014067.4:c.517+33424G>AMANE SELECT
• NP_001371395.1:p.Tyr516=
• NP_001410896.1:p.Tyr488=
• NP_037412.2:p.Tyr516=
• NC_000011.9:g.63885287C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs947939

NCBI 1000 Genomes Browser:

rs947939

Molecular consequence:

• NM_001411019.1:c.517+33424G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_014067.4:c.517+33424G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001384466.1:c.1548C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001423967.1:c.1464C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_013280.5:c.1548C>T - synonymous variant - [Sequence Ontology: SO:0001819]