ClinVar

NM_004380.3(CREBBP):c.910del (p.Val304fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

16p13.3

Genomic location:

• Chr16: 3810668 (on Assembly GRCh38)
• Chr16: 3860669 (on Assembly GRCh37)

Preferred name:

NM_004380.3(CREBBP):c.910del (p.Val304fs)

HGVS:

• NC_000016.10:g.3810669del
• NG_009873.2:g.75046del
• NM_001079846.1:c.910del
• NM_004380.3:c.910delMANE SELECT
• NP_001073315.1:p.Val304fs
• NP_004371.2:p.Val304fs
• LRG_1426t1:c.910del
• LRG_1426:g.75046del
• LRG_1426p1:p.Val304fs
• NC_000016.9:g.3860670del
• NG_009873.1:g.74453del
• NM_004380.2:c.910delG

This HGVS expression did not pass validation

Protein change:

V304fs

Links:

dbSNP: rs398124150

NCBI 1000 Genomes Browser:

rs398124150

Molecular consequence:

• NM_001079846.1:c.910del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_004380.3:c.910del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

1