ClinVar

NM_004380.3(CREBBP):c.973A>T (p.Met325Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

• Chr16: 3810605 (on Assembly GRCh38)
• Chr16: 3860606 (on Assembly GRCh37)

Preferred name:

NM_004380.3(CREBBP):c.973A>T (p.Met325Leu)

HGVS:

• NC_000016.10:g.3810605T>A
• NG_009873.2:g.75109A>T
• NM_001079846.1:c.973A>T
• NM_004380.3:c.973A>TMANE SELECT
• NP_001073315.1:p.Met325Leu
• NP_004371.2:p.Met325Leu
• LRG_1426t1:c.973A>T
• LRG_1426:g.75109A>T
• LRG_1426p1:p.Met325Leu
• NC_000016.9:g.3860606T>A
• NG_009873.1:g.74516A>T
• NM_004380.2:c.973A>T

This HGVS expression did not pass validation

Protein change:

M325L

Links:

dbSNP: rs747990896

NCBI 1000 Genomes Browser:

rs747990896

Molecular consequence:

• NM_001079846.1:c.973A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004380.3:c.973A>T - missense variant - [Sequence Ontology: SO:0001583]