ClinVar

NM_001320047.2(FIRRM):c.386A>G (p.Tyr129Cys)

Gene:

FIRRM:FIGNL1 interacting regulator of recombination and mitosis [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q24.2

Genomic location:

• Chr1: 169804148 (on Assembly GRCh38)
• Chr1: 169773289 (on Assembly GRCh37)

Preferred name:

NM_001320047.2(FIRRM):c.386A>G (p.Tyr129Cys)

HGVS:

• NC_000001.11:g.169804148A>G
• NM_001320047.2:c.386A>GMANE SELECT
• NM_001320048.2:c.-20A>G
• NM_001320050.2:c.523A>G
• NM_001320051.2:c.386A>G
• NM_001363739.2:c.-568A>G
• NM_001366768.1:c.299A>G
• NM_001366769.1:c.560A>G
• NM_001366770.1:c.560A>G
• NM_001366771.1:c.-707A>G
• NM_001366772.1:c.-445A>G
• NM_001366773.1:c.-445A>G
• NP_001306976.1:p.Tyr129Cys
• NP_001306979.1:p.Ile175Val
• NP_001306980.1:p.Tyr129Cys
• NP_001353697.1:p.Tyr100Cys
• NP_001353698.1:p.Tyr187Cys
• NP_001353699.1:p.Tyr187Cys
• NC_000001.10:g.169773289A>G
• NR_159440.1:n.586A>G

This HGVS expression did not pass validation

Protein change:

I175V

Molecular consequence:

• NM_001320048.2:c.-20A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001363739.2:c.-568A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001366771.1:c.-707A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001366772.1:c.-445A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001366773.1:c.-445A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001320047.2:c.386A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001320050.2:c.523A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001320051.2:c.386A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001366768.1:c.299A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001366769.1:c.560A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001366770.1:c.560A>G - missense variant - [Sequence Ontology: SO:0001583]
• NR_159440.1:n.586A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]