ClinVar

NM_031433.4(MFRP):c.1635G>A (p.Ala545=)

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: 119341653 (on Assembly GRCh38)
• Chr11: 119212363 (on Assembly GRCh37)

Preferred name:

NM_031433.4(MFRP):c.1635G>A (p.Ala545=)

HGVS:

• NC_000011.10:g.119341653C>T
• NG_012235.1:g.10021G>A
• NM_015645.5:c.-1002G>A
• NM_031433.4:c.1635G>AMANE SELECT
• NP_113621.1:p.Ala545=
• NC_000011.9:g.119212363C>T
• NM_015645.4:c.-1002G>A
• NM_031433.3:c.1635G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs138370910

NCBI 1000 Genomes Browser:

rs138370910

Molecular consequence:

• NM_015645.5:c.-1002G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_031433.4:c.1635G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

5