ClinVar

NM_031433.4(MFRP):c.271+10C>T

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: 119346036 (on Assembly GRCh38)
• Chr11: 119216746 (on Assembly GRCh37)

Preferred name:

NM_031433.4(MFRP):c.271+10C>T

HGVS:

• NC_000011.10:g.119346036G>A
• NG_012235.1:g.5638C>T
• NM_015645.5:c.-2366+10C>T
• NM_031433.4:c.271+10C>TMANE SELECT
• NC_000011.9:g.119216746G>A
• NM_015645.4:c.-2366+10C>T
• NM_031433.3:c.271+10C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs554865241

NCBI 1000 Genomes Browser:

rs554865241

Molecular consequence:

• NM_015645.5:c.-2366+10C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_031433.4:c.271+10C>T - intron variant - [Sequence Ontology: SO:0001627]