Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs121918377

PYCR1

rs121918377 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PYCR1. Location: chromosome 17, position 79,892,986. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

PYCR1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
17:79892986
Cytoband
17q25.3
HGVS
NM_006907.4(PYCR1):c.356G>A (p.Arg119His)
Allele change
Missense_R119H

Associated conditions / phenotypes

Autosomal recessive cutis laxa type 2B|PYCR1-related de Barsy syndrome|Wiedemann-Rautenstrauch-like progeroid syndrome

Public references

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