Variant (rsID / SNP)

rs1021737

rs1021737 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CTH. Location: chromosome 1, position 70,904,800. Clinical significance in the table: Benign.

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Reference-table entries

CTHBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:70904800
Cytoband: 1p31.1
HGVS: NM_001902.6(CTH):c.1208G>T (p.Ser403Ile)
Allele change: Missense_S403I

Associated conditions / phenotypes

Homocysteine level elevated|Cystathioninuria

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.