Variant (rsID / SNP)

rs370138167

rs370138167 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMEM165. Location: chromosome 4, position 56,278,021. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TMEM165Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 4:56278021
Cytoband: 4q12
HGVS: NM_018475.5(TMEM165):c.433+15C>A
Allele change: Silent

Associated conditions / phenotypes

TMEM165-congenital disorder of glycosylation

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.