Variant (rsID / SNP)

rs121917766

rs121917766 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KDR. Location: chromosome 4, position 55,955,106. Clinical significance in the table: Pathogenic.

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Reference-table entries

KDRPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 4:55955106
Cytoband: 4q12
HGVS: NM_002253.4(KDR):c.3439C>T (p.Pro1147Ser)
Allele change: Missense_P1147S

Associated conditions / phenotypes

Capillary infantile hemangioma

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.