Variant (rsID / SNP)

rs180177039

rs180177039 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRAF. Location: chromosome 7, position 140,477,806. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

BRAFPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:140477806
Cytoband: 7q34
HGVS: NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly)
Allele change: Missense_E501G

Associated conditions / phenotypes

Cardiofaciocutaneous syndrome 1|Cardio-facio-cutaneous syndrome|10 conditions|RASopathy|Familial cardiofaciocutaneous syndrome

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.