ClinVar

NM_031433.4(MFRP):c.*483T>C

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: 119341065 (on Assembly GRCh38)
• Chr11: 119211775 (on Assembly GRCh37)

Preferred name:

NM_031433.4(MFRP):c.*483T>C

HGVS:

• NC_000011.10:g.119341065A>G
• NG_012235.1:g.10609T>C
• NM_015645.5:c.-414T>C
• NM_031433.4:c.*483T>CMANE SELECT
• NC_000011.9:g.119211775A>G
• NM_015645.4:c.-414T>C
• NM_031433.3:c.*483T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs147285871

NCBI 1000 Genomes Browser:

rs147285871

Molecular consequence:

• NM_031433.4:c.*483T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_015645.5:c.-414T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]