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Variant (rsID / SNP)

rs4044210

CELSR1

rs4044210 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CELSR1. Location: chromosome 22, position 46,786,315. The table records no clinical significance for this variant.

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Reference-table entries

CELSR1Not classified
Variant type
missense_variant
Chromosome / position
22:46786315
HGVS
NM_001378328.1,c.6319A>G,p.Ile2107Val
Allele change
Missense_I2107V

Associated conditions / phenotypes

Hypercholesterolemia, Familial, 1|Hypercholesterolemia, Familial, 3

Public references

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