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Variant (rsID / SNP)

rs200354654

CC2D1A

rs200354654 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CC2D1A. Location: chromosome 19, position 14,038,761. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CC2D1AConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
19:14038761
Cytoband
19p13.12
HGVS
NM_017721.5(CC2D1A):c.2372G>A (p.Arg791Gln)
Allele change
Missense_R791Q

Public references

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