Variant (rsID / SNP)

rs372686071

rs372686071 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMEM237. Location: chromosome 2, position 202,492,057. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TMEM237Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 2:202492057
Cytoband: 2q33.1
HGVS: NM_001044385.3(TMEM237):c.1024A>G (p.Asn342Asp)
Allele change: Missense_N342D

Associated conditions / phenotypes

Joubert syndrome 14|Joubert syndrome 1

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.