Variant (rsID / SNP)

rs180177040

rs180177040 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRAF. Location: chromosome 7, position 140,453,987. Clinical significance in the table: Pathogenic.

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Reference-table entries

BRAFPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:140453987
Cytoband: 7q34
HGVS: NM_004333.6(BRAF):c.1741A>G (p.Asn581Asp)
Allele change: Missense_N581D

Associated conditions / phenotypes

Cardiofaciocutaneous syndrome 1|Cardio-facio-cutaneous syndrome|RASopathy|Inborn genetic diseases

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.