Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs17883718

GCLC

rs17883718 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GCLC. Location: chromosome 6, position 53,370,201. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

GCLCConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:53370201
Cytoband
6p12.1
HGVS
NM_001498.4(GCLC):c.1384C>T (p.Pro462Ser)
Allele change
Missense_P462S

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.