ClinVar

NM_145200.5(CABP4):c.318C>T (p.Asp106=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.2

Genomic location:

• Chr11: 67455741 (on Assembly GRCh38)
• Chr11: 67223212 (on Assembly GRCh37)

Preferred name:

NM_145200.5(CABP4):c.318C>T (p.Asp106=)

HGVS:

• NC_000011.10:g.67455741C>T
• NG_021211.1:g.5395C>T
• NM_001300895.3:c.-66C>T
• NM_001300896.3:c.-80C>T
• NM_001379183.1:c.-80C>T
• NM_145200.5:c.318C>TMANE SELECT
• NP_660201.1:p.Asp106=
• NC_000011.9:g.67223212C>T
• NM_145200.3:c.318C>T
• NR_166529.1:n.388C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs375330570

NCBI 1000 Genomes Browser:

rs375330570

Molecular consequence:

• NM_001300895.3:c.-66C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001300896.3:c.-80C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001379183.1:c.-80C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NR_166529.1:n.388C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_145200.5:c.318C>T - synonymous variant - [Sequence Ontology: SO:0001819]