ClinVar

NM_004380.3(CREBBP):c.6138G>A (p.Ala2046=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

• Chr16: 3728909 (on Assembly GRCh38)
• Chr16: 3778910 (on Assembly GRCh37)

Preferred name:

NM_004380.3(CREBBP):c.6138G>A (p.Ala2046=)

HGVS:

• NC_000016.10:g.3728909C>T
• NG_009873.2:g.156805G>A
• NM_001079846.1:c.6024G>A
• NM_004380.3:c.6138G>AMANE SELECT
• NP_001073315.1:p.Ala2008=
• NP_004371.2:p.Ala2046=
• LRG_1426t1:c.6138G>A
• LRG_1426:g.156805G>A
• LRG_1426p1:p.Ala2046=
• NC_000016.9:g.3778910C>T
• NC_000016.9:g.3778910C>T
• NG_009873.1:g.156212G>A
• NM_004380.2:c.6138G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs371656213

NCBI 1000 Genomes Browser:

rs371656213

Molecular consequence:

• NM_001079846.1:c.6024G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004380.3:c.6138G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2