ClinVar

NM_004380.3(CREBBP):c.4509C>G (p.Tyr1503Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

• Chr16: 3736701 (on Assembly GRCh38)
• Chr16: 3786702 (on Assembly GRCh37)

Preferred name:

NM_004380.3(CREBBP):c.4509C>G (p.Tyr1503Ter)

HGVS:

• NC_000016.10:g.3736701G>C
• NG_009873.2:g.149013C>G
• NM_001079846.1:c.4395C>G
• NM_004380.3:c.4509C>GMANE SELECT
• NP_001073315.1:p.Tyr1465Ter
• NP_004371.2:p.Tyr1503Ter
• LRG_1426t1:c.4509C>G
• LRG_1426:g.149013C>G
• LRG_1426p1:p.Tyr1503Ter
• NC_000016.9:g.3786702G>C
• NG_009873.1:g.148420C>G

This HGVS expression did not pass validation

Protein change:

Y1465*

Links:

dbSNP: rs1555473105

NCBI 1000 Genomes Browser:

rs1555473105

Molecular consequence:

• NM_001079846.1:c.4395C>G - nonsense - [Sequence Ontology: SO:0001587]
• NM_004380.3:c.4509C>G - nonsense - [Sequence Ontology: SO:0001587]

Observations:

1