ClinVar

NM_198215.4(FAM13C):c.1556G>A (p.Arg519Gln)

Gene:

FAM13C:family with sequence similarity 13 member C [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q21.1

Genomic location:

• Chr10: 59251653 (on Assembly GRCh38)
• Chr10: 61011413 (on Assembly GRCh37)

Preferred name:

NM_198215.4(FAM13C):c.1556G>A (p.Arg519Gln)

HGVS:

• NC_000010.11:g.59251653C>T
• NG_053188.1:g.116534G>A
• NG_053188.2:g.116528G>A
• NM_001001971.3:c.1262G>A
• NM_001143773.1:c.1307G>A
• NM_001166698.2:c.1304G>A
• NM_001347840.2:c.1307G>A
• NM_001347842.2:c.1304G>A
• NM_001347843.1:c.986G>A
• NM_001347844.1:c.1304G>A
• NM_001347845.1:c.1010G>A
• NM_001347846.1:c.1307G>A
• NM_001347847.1:c.1307G>A
• NM_001347848.1:c.1277G>A
• NM_001347849.2:c.1553G>A
• NM_001347850.2:c.1277G>A
• NM_001347851.2:c.1307G>A
• NM_001347852.2:c.1556G>A
• NM_198215.4:c.1556G>AMANE SELECT
• NP_001001971.1:p.Arg421Gln
• NP_001137245.1:p.Arg436Gln
• NP_001160170.1:p.Arg435Gln
• NP_001334769.1:p.Arg436Gln
• NP_001334771.1:p.Arg435Gln
• NP_001334772.1:p.Arg329Gln
• NP_001334773.1:p.Arg435Gln
• NP_001334774.1:p.Arg337Gln
• NP_001334775.1:p.Arg436Gln
• NP_001334776.1:p.Arg436Gln
• NP_001334777.1:p.Arg426Gln
• NP_001334778.1:p.Arg518Gln
• NP_001334779.1:p.Arg426Gln
• NP_001334780.1:p.Arg436Gln
• NP_001334781.1:p.Arg519Gln
• NP_937858.2:p.Arg519Gln
• NC_000010.10:g.61011413C>T
• NM_198215.3:c.1556G>A

This HGVS expression did not pass validation

Protein change:

R329Q

Molecular consequence:

• NM_001001971.3:c.1262G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001143773.1:c.1307G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001166698.2:c.1304G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001347840.2:c.1307G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001347842.2:c.1304G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001347843.1:c.986G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001347844.1:c.1304G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001347845.1:c.1010G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001347846.1:c.1307G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001347847.1:c.1307G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001347848.1:c.1277G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001347849.2:c.1553G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001347850.2:c.1277G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001347851.2:c.1307G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001347852.2:c.1556G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_198215.4:c.1556G>A - missense variant - [Sequence Ontology: SO:0001583]