ClinVar

NM_001387850.1(FILIP1L):c.2869G>T (p.Val957Leu)

Genes:

CMSS1:cms1 ribosomal small subunit homolog [Gene - HGNC]
FILIP1L:filamin A interacting protein 1 like [Gene - OMIM - HGNC]
LOC105374010:uncharacterized LOC105374010 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

3q12.1

Genomic location:

• Chr3: 99848807 (on Assembly GRCh38)
• Chr3: 99567651 (on Assembly GRCh37)

Preferred name:

NM_001387850.1(FILIP1L):c.2869G>T (p.Val957Leu)

HGVS:

• NC_000003.12:g.99848807C>A
• NM_001042459.3:c.2869G>T
• NM_001282793.2:c.1597G>T
• NM_001282794.2:c.2149G>T
• NM_001370247.1:c.2149G>T
• NM_001387850.1:c.2869G>TMANE SELECT
• NM_001387851.1:c.2149G>T
• NM_001387852.1:c.606-18202G>T
• NM_014890.4:c.2149G>T
• NM_032359.4:c.64+30764C>AMANE SELECT
• NM_182909.4:c.2869G>T
• NP_001035924.1:p.Val957Leu
• NP_001269722.1:p.Val533Leu
• NP_001269723.1:p.Val717Leu
• NP_001357176.1:p.Val717Leu
• NP_001374779.1:p.Val957Leu
• NP_001374780.1:p.Val717Leu
• NP_055705.2:p.Val717Leu
• NP_878913.2:p.Val957Leu
• NC_000003.11:g.99567651C>A
• NM_182909.2:c.2869G>T

This HGVS expression did not pass validation

Protein change:

V533L

Molecular consequence:

• NM_001387852.1:c.606-18202G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_032359.4:c.64+30764C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001042459.3:c.2869G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282793.2:c.1597G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282794.2:c.2149G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370247.1:c.2149G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001387850.1:c.2869G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001387851.1:c.2149G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_014890.4:c.2149G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_182909.4:c.2869G>T - missense variant - [Sequence Ontology: SO:0001583]