ClinVar

NM_176875.4(CCKBR):c.832C>A (p.Arg278Ser)

Genes:

LOC126861124:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:6291386-6292585 [Gene]
CCKBR:cholecystokinin B receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

• Chr11: 6271031 (on Assembly GRCh38)
• Chr11: 6292261 (on Assembly GRCh37)

Preferred name:

NM_176875.4(CCKBR):c.832C>A (p.Arg278Ser)

HGVS:

• NC_000011.10:g.6271031C>A
• NG_030591.2:g.16195C>A
• NG_085623.1:g.976C>A
• NM_001318029.2:c.580C>A
• NM_001363552.2:c.1039C>A
• NM_176875.4:c.832C>AMANE SELECT
• NP_001304958.1:p.Arg194Ser
• NP_001350481.1:p.Arg347Ser
• NP_795344.1:p.Arg278Ser
• NC_000011.9:g.6292261C>A
• NG_030591.1:g.16358C>A
• NM_176875.2:c.832C>A

This HGVS expression did not pass validation

Protein change:

R194S

Molecular consequence:

• NM_001318029.2:c.580C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363552.2:c.1039C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_176875.4:c.832C>A - missense variant - [Sequence Ontology: SO:0001583]