Variant (rsID / SNP)

rs183638147

rs183638147 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GFER. Location: chromosome 16, position 2,035,961. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

GFERConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 16:2035961
Cytoband: 16p13.3
HGVS: NM_005262.3(GFER):c.550C>A (p.Pro184Thr)
Allele change: Missense_P184T

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.