ClinVar

NM_145200.5(CABP4):c.10G>C (p.Glu4Gln)

Gene:

CABP4:calcium binding protein 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.2

Genomic location:

• Chr11: 67455433 (on Assembly GRCh38)
• Chr11: 67222904 (on Assembly GRCh37)

Preferred name:

NM_145200.5(CABP4):c.10G>C (p.Glu4Gln)

HGVS:

• NC_000011.10:g.67455433G>C
• NG_021211.1:g.5087G>C
• NM_001300895.3:c.-374G>C
• NM_001300896.3:c.-112-276G>C
• NM_001379183.1:c.-387-1G>C
• NM_145200.5:c.10G>CMANE SELECT
• NP_660201.1:p.Glu4Gln
• NC_000011.9:g.67222904G>C
• NM_145200.3:c.10G>C
• NR_166529.1:n.80G>C

This HGVS expression did not pass validation

Protein change:

E4Q

Links:

dbSNP: rs143494300

NCBI 1000 Genomes Browser:

rs143494300

Molecular consequence:

• NM_001300895.3:c.-374G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001300896.3:c.-112-276G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_145200.5:c.10G>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_166529.1:n.80G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001379183.1:c.-387-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]