Variant (rsID / SNP)

rs1064794050

rs1064794050 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IGF2. Location: chromosome 11, position 2,156,676. Clinical significance in the table: Pathogenic.

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Reference-table entries

IGF2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:2156676
Cytoband: 11p15.5
HGVS: NM_000612.6(IGF2):c.78C>G (p.Tyr26Ter)
Allele change: Nonsense_Y26X

Associated conditions / phenotypes

Silver-Russell syndrome 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.