Variant (rsID / SNP)

rs2270812

rs2270812 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to THG1L. Location: chromosome 5, position 157,164,962. The table records no clinical significance for this variant.

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Reference-table entries

THG1LNot classified

Variant type: missense_variant
Chromosome / position: 5:157164962
HGVS: NM_017872.5,c.695T>C,p.Leu232Pro
Allele change: Missense_L107P

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.