ClinVar

NM_145200.5(CABP4):c.242C>T (p.Ala81Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.2

Genomic location:

• Chr11: 67455665 (on Assembly GRCh38)
• Chr11: 67223136 (on Assembly GRCh37)

Preferred name:

NM_145200.5(CABP4):c.242C>T (p.Ala81Val)

HGVS:

• NC_000011.10:g.67455665C>T
• NG_021211.1:g.5319C>T
• NM_001300895.3:c.-142C>T
• NM_001300896.3:c.-112-44C>T
• NM_001379183.1:c.-156C>T
• NM_145200.5:c.242C>TMANE SELECT
• NP_660201.1:p.Ala81Val
• NC_000011.9:g.67223136C>T
• NM_145200.3:c.242C>T
• NR_166529.1:n.312C>T

This HGVS expression did not pass validation

Protein change:

A81V

Links:

dbSNP: rs148140510

NCBI 1000 Genomes Browser:

rs148140510

Molecular consequence:

• NM_001300895.3:c.-142C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001379183.1:c.-156C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001300896.3:c.-112-44C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_145200.5:c.242C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_166529.1:n.312C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]