KLHL40 Chromosome 3

Kelch like family member 40
46 variants 46 Health Risk

Upload your DNA to see your personal genotypes for variants in KLHL40.

What This Gene Does
This gene encodes a protein containing a BACK domain, a BTB/POZ domain, and 5 Kelch repeats, however, its exact function is not known. The gene and the multi-domain protein structure are conserved across different taxa, including primates, rodents, chicken and zebrafish. [provided by RefSeq, Dec 2012]
Gene Info
Gene Group
"Kelch like|BTB domain containing"
Locus Type
gene with protein product
Location
3p22.1
Ensembl
ENSG00000157119
Associated Conditions (3)
Nemaline myopathy 8
Inborn genetic diseases
KLHL40-related disorder
Key Variants
RS138075372
Conflicting classifications of pathogenicity
Nemaline myopathy 8, Inborn genetic diseases, Nemaline myopathy 8
Health Risk
RS138791086
Conflicting classifications of pathogenicity
Nemaline myopathy 8, Inborn genetic diseases, Nemaline myopathy 8
Health Risk
RS144461124
Conflicting classifications of pathogenicity
Nemaline myopathy 8, Inborn genetic diseases, Nemaline myopathy 8
Health Risk
RS201336129
Conflicting classifications of pathogenicity
Nemaline myopathy 8, Inborn genetic diseases, Nemaline myopathy 8
Health Risk
RS201856772
Conflicting classifications of pathogenicity
Nemaline myopathy 8, Nemaline myopathy 8
Health Risk
RS367579275
Conflicting classifications of pathogenicity
Nemaline myopathy 8, Nemaline myopathy 8, Nemaline myopathy 8
Health Risk
RS372246096
Conflicting classifications of pathogenicity
Nemaline myopathy 8, Nemaline myopathy 8
Health Risk
RS557898007
Conflicting classifications of pathogenicity
Nemaline myopathy 8, Nemaline myopathy 8
Health Risk
RS760987187
Conflicting classifications of pathogenicity
Inborn genetic diseases, Nemaline myopathy 8, Inborn genetic diseases
Health Risk
RS763283033
Conflicting classifications of pathogenicity
Nemaline myopathy 8, Nemaline myopathy 8
Health Risk
RS777496833
Conflicting classifications of pathogenicity
Nemaline myopathy 8, Nemaline myopathy 8
Health Risk
RS778565563
Conflicting classifications of pathogenicity
Nemaline myopathy 8, Nemaline myopathy 8
Health Risk
All Variants (46)
RSID Category Clinical Significance Conditions
RS138075372 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 8, Inborn genetic diseases, Nemaline myopathy 8
RS138791086 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 8, Inborn genetic diseases, Nemaline myopathy 8
RS144461124 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 8, Inborn genetic diseases, Nemaline myopathy 8
RS201336129 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 8, Inborn genetic diseases, Nemaline myopathy 8
RS201856772 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 8, Nemaline myopathy 8
RS367579275 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 8, Nemaline myopathy 8, Nemaline myopathy 8
RS372246096 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 8, Nemaline myopathy 8
RS557898007 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 8, Nemaline myopathy 8
RS760987187 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Nemaline myopathy 8, Inborn genetic diseases
RS763283033 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 8, Nemaline myopathy 8
RS777496833 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 8, Nemaline myopathy 8
RS778565563 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 8, Nemaline myopathy 8
RS1085307627 Health Risk Likely pathogenic —
RS1186218257 Health Risk Likely pathogenic Nemaline myopathy 8, Nemaline myopathy 8
RS1220386162 Health Risk Likely pathogenic Nemaline myopathy 8, Nemaline myopathy 8
RS1440284508 Health Risk Likely pathogenic Nemaline myopathy 8, Nemaline myopathy 8
RS1486566170 Health Risk Likely pathogenic Nemaline myopathy 8, Nemaline myopathy 8
RS1575218072 Health Risk Likely pathogenic Nemaline myopathy 8, Nemaline myopathy 8
RS1575219191 Health Risk Likely pathogenic Nemaline myopathy 8, Nemaline myopathy 8
RS2125845625 Health Risk Likely pathogenic Nemaline myopathy 8, Nemaline myopathy 8
RS573886282 Health Risk Likely pathogenic Nemaline myopathy 8, Nemaline myopathy 8
RS752493018 Health Risk Likely pathogenic Nemaline myopathy 8, Nemaline myopathy 8
RS778303947 Health Risk Likely pathogenic Nemaline myopathy 8, Nemaline myopathy 8
RS1055019439 Health Risk Pathogenic Nemaline myopathy 8, Nemaline myopathy 8
RS1277851312 Health Risk Pathogenic Nemaline myopathy 8, Nemaline myopathy 8
RS1292866391 Health Risk Pathogenic Nemaline myopathy 8, Nemaline myopathy 8
RS1384412486 Health Risk Pathogenic Nemaline myopathy 8, Nemaline myopathy 8
RS139588377 Health Risk Pathogenic Nemaline myopathy 8, Nemaline myopathy 8
RS1575218831 Health Risk Pathogenic Nemaline myopathy 8, Nemaline myopathy 8
RS1697260724 Health Risk Pathogenic Nemaline myopathy 8, Nemaline myopathy 8
RS2125844554 Health Risk Pathogenic Nemaline myopathy 8, Nemaline myopathy 8
RS2125844563 Health Risk Pathogenic Nemaline myopathy 8, Nemaline myopathy 8
RS2125846068 Health Risk Pathogenic Nemaline myopathy 8, Nemaline myopathy 8, Nemaline myopathy 8
RS2471311897 Health Risk Pathogenic Nemaline myopathy 8, Nemaline myopathy 8
RS375331819 Health Risk Pathogenic Nemaline myopathy 8, Nemaline myopathy 8
RS397509420 Health Risk Pathogenic Nemaline myopathy 8, Nemaline myopathy 8, KLHL40-related disorder
RS397509421 Health Risk Pathogenic Nemaline myopathy 8, Nemaline myopathy 8
RS545767433 Health Risk Pathogenic Nemaline myopathy 8, Nemaline myopathy 8
RS752734208 Health Risk Pathogenic Nemaline myopathy 8, Nemaline myopathy 8
RS770267750 Health Risk Pathogenic Nemaline myopathy 8, Nemaline myopathy 8
RS778022582 Health Risk Pathogenic Nemaline myopathy 8, Nemaline myopathy 8
RS924279167 Health Risk Pathogenic Nemaline myopathy 8, Nemaline myopathy 8
RS1697319878 Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 8, Nemaline myopathy 8
RS397509419 Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 8, Nemaline myopathy 8
RS758188096 Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 8, Nemaline myopathy 8
RS768335581 Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 8, Nemaline myopathy 8
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