Variant (rsID / SNP)

rs138509553

rs138509553 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMEM237. Location: chromosome 2, position 202,490,818. 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: 2:202490818
Cytoband: 2q33.1
HGVS: NM_001044385.3(TMEM237):c.1090G>A (p.Val364Met)
Allele change: Missense_V364M

Associated conditions / phenotypes

Joubert syndrome 14

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.