Variant (rsID / SNP)

rs199469707

rs199469707 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMEM237. Location: chromosome 2, position 202,505,638. Clinical significance in the table: Pathogenic.

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Reference-table entries

TMEM237Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:202505638
Cytoband: 2q33.1
HGVS: NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter)
Allele change: Nonsense_R18X

Associated conditions / phenotypes

Joubert syndrome 14|Joubert syndrome|Joubert syndrome and related disorders

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.