Variant (rsID / SNP)
rs16981869
rs16981869 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GEN1. Location: chromosome 2, position 17,946,243. The table records no clinical significance for this variant.
Reference-table entries
GEN1Not classified
- Variant type
- missense_variant
- Chromosome / position
- 2:17946243
- HGVS
- NM_001130009.3,c.428A>G,p.Asn143Ser
- Allele change
- Missense_N143S
Associated conditions / phenotypes
Childhood Acute Lymphocytic Leukemia|Nondisjunction|Fanconi Anemia, Complementation Group P|Leukemia, Acute Lymphoblastic|Fanconi Anemia, Complementation Group a|Deficiency Anemia|Childhood Leukemia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.