SMC1B Chromosome 22

Structural maintenance of chromosomes 1B

1 variant 1 Health Risk

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What This Gene Does

SMC1L2 belongs to a family of proteins required for chromatid cohesion and DNA recombination during meiosis and mitosis (3:Revenkova et al., 2001 [PubMed 11564881]).[supplied by OMIM, Mar 2008]

Gene Info

Gene Group

"Structural maintenance of chromosomes proteins|Cohesin complex"

Locus Type

gene with protein product

Location

22q13.31

Ensembl

ENSG00000077935

Associated Conditions (1)

Genetic non-acquired premature ovarian failure

Key Variants

RS781614640

Likely pathogenic

Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS781614640	Health Risk	Likely pathogenic	Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure