ClinVar

NM_004380.3(CREBBP):c.5551C>T (p.Arg1851Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

• Chr16: 3729496 (on Assembly GRCh38)
• Chr16: 3779497 (on Assembly GRCh37)

Preferred name:

NM_004380.3(CREBBP):c.5551C>T (p.Arg1851Cys)

HGVS:

• NC_000016.10:g.3729496G>A
• NG_009873.1:g.155625C>T
• NG_009873.2:g.156218C>T
• NM_001079846.1:c.5437C>T
• NM_004380.3:c.5551C>TMANE SELECT
• NP_001073315.1:p.Arg1813Cys
• NP_004371.2:p.Arg1851Cys
• NP_004371.2:p.Arg1851Cys
• LRG_1426t1:c.5551C>T
• LRG_1426:g.156218C>T
• LRG_1426p1:p.Arg1851Cys
• NC_000016.9:g.3779497G>A
• NM_004380.2:c.5551C>T

This HGVS expression did not pass validation

Protein change:

R1813C

Links:

dbSNP: rs763253161

NCBI 1000 Genomes Browser:

rs763253161

Molecular consequence:

• NM_001079846.1:c.5437C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004380.3:c.5551C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1