ClinVar

NM_004380.3(CREBBP):c.6244C>T (p.Gln2082Ter)

Gene:

CREBBP:CREB binding protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

• Chr16: 3728803 (on Assembly GRCh38)
• Chr16: 3778804 (on Assembly GRCh37)

Preferred name:

NM_004380.3(CREBBP):c.6244C>T (p.Gln2082Ter)

HGVS:

• NC_000016.10:g.3728803G>A
• NG_009873.2:g.156911C>T
• NM_001079846.1:c.6130C>T
• NM_004380.3:c.6244C>TMANE SELECT
• NP_001073315.1:p.Gln2044Ter
• NP_004371.2:p.Gln2082Ter
• NP_004371.2:p.Gln2082Ter
• LRG_1426t1:c.6244C>T
• LRG_1426:g.156911C>T
• LRG_1426p1:p.Gln2082Ter
• NC_000016.9:g.3778804G>A
• NG_009873.1:g.156318C>T
• NM_004380.2:c.6244C>T

This HGVS expression did not pass validation

Protein change:

Q2044*

Links:

dbSNP: rs1057518789

NCBI 1000 Genomes Browser:

rs1057518789

Molecular consequence:

• NM_001079846.1:c.6130C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_004380.3:c.6244C>T - nonsense - [Sequence Ontology: SO:0001587]