LSM7 Chromosome 19

LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated

2 variants 2 Health Risk

Upload your DNA to see your personal genotypes for variants in LSM7.

What This Gene Does

Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM, Apr 2004]

Gene Info

Gene Group

LSm proteins

Locus Type

gene with protein product

Location

19p13.3

Ensembl

ENSG00000130332

Associated Conditions (4)

In utero death

Joubert syndrome 36

Leukodystrophy

LSM7-related leukodystrophy and cerebellar atrophy

Key Variants

RS753556902

Likely pathogenic

In utero death, Joubert syndrome 36, In utero death

Health Risk

RS750219615

Pathogenic

Leukodystrophy, LSM7-related leukodystrophy and cerebellar atrophy, Leukodystrophy

Health Risk

All Variants (2)

RSID	Category	Clinical Significance	Conditions
RS753556902	Health Risk	Likely pathogenic	In utero death, Joubert syndrome 36, In utero death
RS750219615	Health Risk	Pathogenic	Leukodystrophy, LSM7-related leukodystrophy and cerebellar atrophy, Leukodystrophy