Variant (rsID / SNP)

rs397507456

rs397507456 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRAF. Location: chromosome 7, position 140,624,440. Clinical significance in the table: Benign.

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Reference-table entries

BRAFBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 7:140624440
Cytoband: 7q34
HGVS: NM_004333.6(BRAF):c.64G>A (p.Asp22Asn)
Allele change: Missense_D22N

Associated conditions / phenotypes

RASopathy|Cardiomyopathy|LEOPARD syndrome 3|Noonan syndrome 7|Noonan syndrome and Noonan-related 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.