Variant (rsID / SNP)

rs141813053

rs141813053 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DCC. Location: chromosome 18, position 50,683,873. Clinical significance in the table: Uncertain significance.

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Reference-table entries

DCCUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 18:50683873
Cytoband: 18q21.2
HGVS: NM_005215.4(DCC):c.1409G>A (p.Gly470Asp)
Allele change: Missense_G470D

Associated conditions / phenotypes

Mirror movements 1|Amenorrhea

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.