ClinVar

NM_004380.3(CREBBP):c.5173-178C>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

• Chr16: 3730052 (on Assembly GRCh38)
• Chr16: 3780053 (on Assembly GRCh37)

Preferred name:

NM_004380.3(CREBBP):c.5173-178C>T

HGVS:

• NC_000016.10:g.3730052G>A
• NG_009873.2:g.155662C>T
• NM_001079846.1:c.5059-178C>T
• NM_004380.3:c.5173-178C>TMANE SELECT
• LRG_1426t1:c.5173-178C>T
• LRG_1426:g.155662C>T
• NC_000016.9:g.3780053G>A
• NG_009873.1:g.155069C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs77313528

NCBI 1000 Genomes Browser:

rs77313528

Molecular consequence:

• NM_001079846.1:c.5059-178C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_004380.3:c.5173-178C>T - intron variant - [Sequence Ontology: SO:0001627]