ClinVar

NM_013280.5(FLRT1):c.783C>T (p.Ala261=)

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: 64117050 (on Assembly GRCh38)
• Chr11: 63884522 (on Assembly GRCh37)

Preferred name:

NM_013280.5(FLRT1):c.783C>T (p.Ala261=)

HGVS:

• NC_000011.10:g.64117050C>T
• NM_001384466.1:c.783C>T
• NM_001411019.1:c.517+34189G>A
• NM_001423967.1:c.699C>T
• NM_013280.5:c.783C>TMANE SELECT
• NM_014067.4:c.517+34189G>AMANE SELECT
• NP_001371395.1:p.Ala261=
• NP_001410896.1:p.Ala233=
• NP_037412.2:p.Ala261=
• NP_037412.2:p.Ala261=
• NC_000011.9:g.63884522C>T
• NM_013280.4:c.783C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs139711112

NCBI 1000 Genomes Browser:

rs139711112

Molecular consequence:

• NM_001411019.1:c.517+34189G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_014067.4:c.517+34189G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001384466.1:c.783C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001423967.1:c.699C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_013280.5:c.783C>T - synonymous variant - [Sequence Ontology: SO:0001819]