Variant (rsID / SNP)

rs138528064

rs138528064 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to INSR. Location: chromosome 19, position 7,184,342. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

INSRConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 19:7184342
Cytoband: 19p13.2
HGVS: NM_000208.4(INSR):c.959C>T (p.Thr320Met)
Allele change: Missense_T320M

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.