ClinVar

NM_004380.3(CREBBP):c.6056G>T (p.Gly2019Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

• Chr16: 3728991 (on Assembly GRCh38)
• Chr16: 3778992 (on Assembly GRCh37)

Preferred name:

NM_004380.3(CREBBP):c.6056G>T (p.Gly2019Val)

HGVS:

• NC_000016.10:g.3728991C>A
• NG_009873.2:g.156723G>T
• NM_001079846.1:c.5942G>T
• NM_004380.3:c.6056G>TMANE SELECT
• NP_001073315.1:p.Gly1981Val
• NP_004371.2:p.Gly2019Val
• LRG_1426t1:c.6056G>T
• LRG_1426:g.156723G>T
• LRG_1426p1:p.Gly2019Val
• NC_000016.9:g.3778992C>A
• NC_000016.9:g.3778992C>A
• NG_009873.1:g.156130G>T

This HGVS expression did not pass validation

Protein change:

G1981V

Links:

dbSNP: rs771420935

NCBI 1000 Genomes Browser:

rs771420935

Molecular consequence:

• NM_001079846.1:c.5942G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004380.3:c.6056G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1