Variant (rsID / SNP)
rs398124146
rs398124146 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CREBBP. Location: chromosome 16, position 3,788,618. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 16:3788618
- Cytoband
- 16p13.3
- HGVS
- NM_004380.3(CREBBP):c.4336C>T (p.Arg1446Cys)
- Allele change
- Missense_R1408C
Associated conditions / phenotypes
Hepatocellular carcinoma|Squamous cell carcinoma of the head and neck|Medulloblastoma|Squamous cell lung carcinoma|Malignant melanoma of skin|Neoplasm of uterine cervix|Neoplasm of the large intestine|Gastric adenocarcinoma|Glioblastoma|Adenoid cystic carcinoma|Transitional cell carcinoma of the bladder|Rubinstein-Taybi syndrome due to CREBBP mutations|Rubinstein-Taybi syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.