Variant (rsID / SNP)
rs267607048
rs267607048 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SHOC2. Location: chromosome 10, position 112,724,120. Clinical significance in the table: Pathogenic.
Reference-table entries
SHOC2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:112724120
- Cytoband
- 10q25.2
- HGVS
- NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)
- Allele change
- Missense_S2G
Associated conditions / phenotypes
Noonan syndrome-like disorder with loose anagen hair 1|RASopathy|Noonan syndrome|Inborn genetic diseases|Noonan syndrome-like disorder with loose anagen hair|Noonan syndrome and Noonan-related syndrome|Polycystic kidney disease 4
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.