Variant (rsID / SNP)

rs12140153

rs12140153 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PATJ. Location: chromosome 1, position 62,579,891. The table records no clinical significance for this variant.

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Reference-table entries

PATJNot classified

Variant type: missense_variant
Chromosome / position: 1:62579891
HGVS: NM_001350145.3,c.4628G>T,p.Gly1543Val
Allele change: Missense_G1543V

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.