ClinVar

NM_004380.3(CREBBP):c.4336C>G (p.Arg1446Gly)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

• Chr16: 3738617 (on Assembly GRCh38)
• Chr16: 3788618 (on Assembly GRCh37)

Preferred name:

NM_004380.3(CREBBP):c.4336C>G (p.Arg1446Gly)

HGVS:

• NC_000016.10:g.3738617G>C
• NG_009873.2:g.147097C>G
• NM_001079846.1:c.4222C>G
• NM_004380.3:c.4336C>GMANE SELECT
• NP_001073315.1:p.Arg1408Gly
• NP_004371.2:p.Arg1446Gly
• LRG_1426t1:c.4336C>G
• LRG_1426:g.147097C>G
• LRG_1426p1:p.Arg1446Gly
• NC_000016.9:g.3788618G>C
• NG_009873.1:g.146504C>G

This HGVS expression did not pass validation

Protein change:

R1408G

Links:

dbSNP: rs398124146

NCBI 1000 Genomes Browser:

rs398124146

Molecular consequence:

• NM_001079846.1:c.4222C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_004380.3:c.4336C>G - missense variant - [Sequence Ontology: SO:0001583]