ClinVar

NM_031433.4(MFRP):c.786T>A (p.His262Gln)

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: 119344744 (on Assembly GRCh38)
• Chr11: 119215454 (on Assembly GRCh37)

Preferred name:

NM_031433.4(MFRP):c.786T>A (p.His262Gln)

HGVS:

• NC_000011.10:g.119344744A>T
• NG_012235.1:g.6930T>A
• NM_015645.5:c.-1851T>A
• NM_031433.4:c.786T>AMANE SELECT
• NP_113621.1:p.His262Gln
• NC_000011.9:g.119215454A>T
• NM_015645.4:c.-1851T>A
• NM_031433.3:c.786T>A

This HGVS expression did not pass validation

Protein change:

H262Q

Links:

dbSNP: rs751729583

NCBI 1000 Genomes Browser:

rs751729583

Molecular consequence:

• NM_015645.5:c.-1851T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_031433.4:c.786T>A - missense variant - [Sequence Ontology: SO:0001583]