Variant (rsID / SNP)

rs34315806

rs34315806 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HTT. Location: chromosome 4, position 3,162,034. Clinical significance in the table: Benign.

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Reference-table entries

HTTBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 4:3162034
Cytoband: 4p16.3
HGVS: NM_001388492.1(HTT):c.3779C>T (p.Thr1260Met)
Allele change: Missense_T1260M

Associated conditions / phenotypes

Lopes-Maciel-Rodan syndrome

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.