Variant (rsID / SNP)

rs1327552

rs1327552 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SHOC2. Location: chromosome 10, position 112,773,079. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SHOC2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 10:112773079
Cytoband: 10q25.2
HGVS: NM_007373.4(SHOC2):c.*1503A>G
Allele change: Silent

Associated conditions / phenotypes

Noonan syndrome-like disorder with loose anagen hair 1

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.