ClinVar

NM_212482.4(FN1):c.2144C>T (p.Thr715Met)

Gene:

FN1:fibronectin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

• Chr2: 215409718 (on Assembly GRCh38)
• Chr2: 216274441 (on Assembly GRCh37)

Preferred name:

NM_212482.4(FN1):c.2144C>T (p.Thr715Met)

HGVS:

• NC_000002.12:g.215409718G>A
• NG_012196.1:g.31351C>T
• NM_001306129.2:c.2144C>T
• NM_001306130.2:c.2144C>T
• NM_001306131.2:c.2144C>T
• NM_001306132.2:c.2144C>T
• NM_001365517.2:c.2144C>T
• NM_001365518.2:c.2144C>T
• NM_001365519.2:c.2144C>T
• NM_001365520.2:c.2144C>T
• NM_001365521.2:c.2144C>T
• NM_001365522.2:c.2144C>T
• NM_001365523.2:c.2144C>T
• NM_001365524.2:c.2144C>T
• NM_002026.4:c.2144C>T
• NM_212474.3:c.2144C>T
• NM_212476.3:c.2144C>T
• NM_212478.3:c.2144C>T
• NM_212482.4:c.2144C>TMANE SELECT
• NP_001293058.2:p.Thr715Met
• NP_001293059.2:p.Thr715Met
• NP_001293060.2:p.Thr715Met
• NP_001293061.2:p.Thr715Met
• NP_001352446.1:p.Thr715Met
• NP_001352447.1:p.Thr715Met
• NP_001352448.1:p.Thr715Met
• NP_001352449.1:p.Thr715Met
• NP_001352450.1:p.Thr715Met
• NP_001352451.1:p.Thr715Met
• NP_001352452.1:p.Thr715Met
• NP_001352453.1:p.Thr715Met
• NP_002017.2:p.Thr715Met
• NP_997639.2:p.Thr715Met
• NP_997641.2:p.Thr715Met
• NP_997643.2:p.Thr715Met
• NP_997647.2:p.Thr715Met
• NC_000002.11:g.216274441G>A
• NC_000002.11:g.216274441G>A
• NM_212482.2:c.2144C>T

This HGVS expression did not pass validation

Protein change:

T715M

Links:

dbSNP: rs144664306

NCBI 1000 Genomes Browser:

rs144664306

Molecular consequence:

• NM_001306129.2:c.2144C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001306130.2:c.2144C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001306131.2:c.2144C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001306132.2:c.2144C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365517.2:c.2144C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365518.2:c.2144C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365519.2:c.2144C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365520.2:c.2144C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365521.2:c.2144C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365522.2:c.2144C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365523.2:c.2144C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365524.2:c.2144C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_002026.4:c.2144C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_212474.3:c.2144C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_212476.3:c.2144C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_212478.3:c.2144C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_212482.4:c.2144C>T - missense variant - [Sequence Ontology: SO:0001583]