Variant (rsID / SNP)

rs6356

rs6356 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TH. Location: chromosome 11, position 2,190,951. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

THBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 11:2190951
Cytoband: 11p15.5
HGVS: NM_000360.4(TH):c.241G>A (p.Val81Met)
Allele change: Missense_V108M

Associated conditions / phenotypes

Autosomal recessive DOPA responsive dystonia

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.