BICC1 Chromosome 10

BicC family RNA binding protein 1

14 variants 14 Health Risk

Upload your DNA to see your personal genotypes for variants in BICC1.

What This Gene Does

This gene encodes an RNA-binding protein that is active in regulating gene expression by modulating protein translation during embryonic development. Mouse studies identified the corresponding protein to be under strict control during cell differentiation and to be a maternally provided gene product. [provided by RefSeq, Apr 2009]

Gene Info

Gene Group

Sterile alpha motif domain containing

Locus Type

gene with protein product

Location

10q21.1

Ensembl

ENSG00000122870

Associated Conditions (5)

BICC1-related disorder

Renal dysplasia

cystic

susceptibility to

Renal agenesis

Key Variants

RS138398480

Conflicting classifications of pathogenicity

Health Risk

RS144147641

Conflicting classifications of pathogenicity

Health Risk

RS145960427

Conflicting classifications of pathogenicity

Renal dysplasia, cystic, susceptibility to

Health Risk

RS147466451

Conflicting classifications of pathogenicity

Renal dysplasia, cystic, susceptibility to

Health Risk

RS184466963

Conflicting classifications of pathogenicity

Health Risk

RS200593598

Conflicting classifications of pathogenicity

Renal dysplasia, cystic, susceptibility to

Health Risk

RS2493810553

Conflicting classifications of pathogenicity

Renal dysplasia, cystic, susceptibility to

Health Risk

RS747794940

Conflicting classifications of pathogenicity

Health Risk

RS2132831777

Likely pathogenic

Renal dysplasia, cystic, susceptibility to

Health Risk

RS2492076262

Likely pathogenic

Renal dysplasia, cystic, susceptibility to

Health Risk

RS2492140343

Likely pathogenic

Renal dysplasia, cystic, susceptibility to

Health Risk

RS778832785

Likely pathogenic

Renal agenesis, Renal agenesis

Health Risk

All Variants (14)

RSID	Category	Clinical Significance	Conditions
RS138398480	Health Risk	Conflicting classifications of pathogenicity	BICC1-related disorder, BICC1-related disorder
RS144147641	Health Risk	Conflicting classifications of pathogenicity	BICC1-related disorder, BICC1-related disorder
RS145960427	Health Risk	Conflicting classifications of pathogenicity	Renal dysplasia, cystic, susceptibility to
RS147466451	Health Risk	Conflicting classifications of pathogenicity	Renal dysplasia, cystic, susceptibility to
RS184466963	Health Risk	Conflicting classifications of pathogenicity	—
RS200593598	Health Risk	Conflicting classifications of pathogenicity	Renal dysplasia, cystic, susceptibility to
RS2493810553	Health Risk	Conflicting classifications of pathogenicity	Renal dysplasia, cystic, susceptibility to
RS747794940	Health Risk	Conflicting classifications of pathogenicity	—
RS2132831777	Health Risk	Likely pathogenic	Renal dysplasia, cystic, susceptibility to
RS2492076262	Health Risk	Likely pathogenic	Renal dysplasia, cystic, susceptibility to
RS2492140343	Health Risk	Likely pathogenic	Renal dysplasia, cystic, susceptibility to
RS778832785	Health Risk	Likely pathogenic	Renal agenesis, Renal agenesis
RS2132481650	Health Risk	Pathogenic	Renal dysplasia, cystic, susceptibility to
RS387907123	Health Risk	risk factor	Renal dysplasia, cystic, susceptibility to