ClinVar

NM_001278431.2(C1QTNF5):c.489C>G (p.Ser163Arg)

Genes:

C1QTNF5:C1q and TNF related 5 [Gene - OMIM - HGNC]
MFRP:membrane frizzled-related protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q23.3

Genomic location:

• Chr11: 119339574 (on Assembly GRCh38)
• Chr11: 119210284 (on Assembly GRCh37)

Preferred name:

NM_001278431.2(C1QTNF5):c.489C>G (p.Ser163Arg)

Other names:

C1QTNF5, SER163ARG

HGVS:

• NC_000011.10:g.119339574G>C
• NG_012235.1:g.12100C>G
• NM_001278431.2:c.489C>GMANE SELECT
• NM_015645.5:c.489C>G
• NM_031433.4:c.*1385C>GMANE SELECT
• NP_001265360.1:p.Ser163Arg
• NP_056460.1:p.Ser163Arg
• NC_000011.9:g.119210284G>C
• NM_001278431.1:c.489C>G
• NM_015645.3:c.489C>G
• NM_015645.4:c.489C>G
• Q9BXJ0:p.Ser163Arg

This HGVS expression did not pass validation

Protein change:

S163R; SER163ARG

Links:

UniProtKB: Q9BXJ0#VAR_032629; OMIM: 608752.0001; dbSNP: rs111033578

NCBI 1000 Genomes Browser:

rs111033578

Molecular consequence:

• NM_031433.4:c.*1385C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001278431.2:c.489C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_015645.5:c.489C>G - missense variant - [Sequence Ontology: SO:0001583]