ClinVar

NM_004380.3(CREBBP):c.7039G>A (p.Ala2347Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

• Chr16: 3728008 (on Assembly GRCh38)
• Chr16: 3778009 (on Assembly GRCh37)

Preferred name:

NM_004380.3(CREBBP):c.7039G>A (p.Ala2347Thr)

HGVS:

• NC_000016.10:g.3728008C>T
• NG_009873.2:g.157706G>A
• NM_001079846.1:c.6925G>A
• NM_004380.3:c.7039G>AMANE SELECT
• NP_001073315.1:p.Ala2309Thr
• NP_004371.2:p.Ala2347Thr
• LRG_1426t1:c.7039G>A
• LRG_1426:g.157706G>A
• LRG_1426p1:p.Ala2347Thr
• NC_000016.9:g.3778009C>T
• NG_009873.1:g.157113G>A

This HGVS expression did not pass validation

Protein change:

A2309T

Links:

dbSNP: rs2151299673

NCBI 1000 Genomes Browser:

rs2151299673

Molecular consequence:

• NM_001079846.1:c.6925G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004380.3:c.7039G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1