ClinVar

NM_004380.3(CREBBP):c.4119C>T (p.Pro1373=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

• Chr16: 3740413 (on Assembly GRCh38)
• Chr16: 3790414 (on Assembly GRCh37)

Preferred name:

NM_004380.3(CREBBP):c.4119C>T (p.Pro1373=)

HGVS:

• NC_000016.10:g.3740413G>A
• NG_009873.2:g.145301C>T
• NM_001079846.1:c.4005C>T
• NM_004380.3:c.4119C>TMANE SELECT
• NP_001073315.1:p.Pro1335=
• NP_004371.2:p.Pro1373=
• LRG_1426t1:c.4119C>T
• LRG_1426:g.145301C>T
• LRG_1426p1:p.Pro1373=
• NC_000016.9:g.3790414G>A
• NC_000016.9:g.3790414G>A
• NG_009873.1:g.144708C>T
• NM_004380.2:c.4119C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs3025679

NCBI 1000 Genomes Browser:

rs3025679

Molecular consequence:

• NM_001079846.1:c.4005C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004380.3:c.4119C>T - synonymous variant - [Sequence Ontology: SO:0001819]