ClinVar

NM_017911.4(FAM118A):c.844G>A (p.Gly282Arg)

Gene:

FAM118A:family with sequence similarity 118 member A [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.31

Genomic location:

• Chr22: 45332617 (on Assembly GRCh38)
• Chr22: 45728498 (on Assembly GRCh37)

Preferred name:

NM_017911.4(FAM118A):c.844G>A (p.Gly282Arg)

HGVS:

• NC_000022.11:g.45332617G>A
• NM_001104595.2:c.844G>A
• NM_001349913.2:c.844G>A
• NM_001349914.2:c.847G>A
• NM_001349915.2:c.622G>A
• NM_001349916.2:c.886G>A
• NM_017911.4:c.844G>AMANE SELECT
• NP_001098065.1:p.Gly282Arg
• NP_001336842.1:p.Gly282Arg
• NP_001336843.1:p.Gly283Arg
• NP_001336844.1:p.Gly208Arg
• NP_001336845.1:p.Gly296Arg
• NP_060381.2:p.Gly282Arg
• NC_000022.10:g.45728498G>A
• NM_001104595.1:c.844G>A
• NR_146323.1:n.2091G>A

This HGVS expression did not pass validation

Protein change:

G208R

Molecular consequence:

• NM_001104595.2:c.844G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349913.2:c.844G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349914.2:c.847G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349915.2:c.622G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349916.2:c.886G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_017911.4:c.844G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_146323.1:n.2091G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]