Variant (rsID / SNP)

rs2285178

rs2285178 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GCAT. Location: chromosome 22, position 38,205,989. The table records no clinical significance for this variant.

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Reference-table entries

GCATNot classified

Variant type: missense_variant
Chromosome / position: 22:38205989
HGVS: NM_001171690.2,c.230T>C,p.Leu77Ser
Allele change: Missense_L77S

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.