Variant (rsID / SNP)

rs377610697

rs377610697 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLEC. Location: chromosome 8, position 144,994,297. Clinical significance in the table: Uncertain significance.

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Reference-table entries

PLECUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 8:144994297
Cytoband: 8q24.3
HGVS: NM_201384.3(PLEC):c.9692G>C (p.Arg3231Pro)
Allele change: Missense_R3231H

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.