ASCC3 Chromosome 6
Activating signal cointegrator 1 complex subunit 3
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What This Gene Does
This gene encodes a protein that belongs to a family of helicases that are involved in the ATP-dependent unwinding of nucleic acid duplexes. The encoded protein is the largest subunit of the activating signal cointegrator 1 complex that is involved in DNA repair and resistance to alkylation damage. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Gene Info
Gene Group
"Activating signal cointegrator 1 complex|DexD/H helicases"
Locus Type
gene with protein product
Location
6q16.3
Ensembl
ENSG00000112249
Associated Conditions (7)
ASCC3-associated disorder
Intellectual developmental disorder
autosomal recessive 81
Congenital myopathy
See cases
Gastric cancer
ASCC3-related disorder
Key Variants
RS1332043274
Conflicting classifications of pathogenicity
ASCC3-associated disorder, Intellectual developmental disorder, autosomal recessive 81
Health Risk
RS938886650
Conflicting classifications of pathogenicity
Congenital myopathy, Congenital myopathy
Health Risk
RS1432792609
Likely pathogenic
See cases, Intellectual developmental disorder, autosomal recessive 81
Health Risk
RS1781674062
Likely pathogenic
Intellectual developmental disorder, autosomal recessive 81, Intellectual developmental disorder
Health Risk
RS2482809051
Likely pathogenic
ASCC3-related disorder, ASCC3-related disorder
Health Risk
RS1045124261
Pathogenic
Intellectual developmental disorder, autosomal recessive 81, Intellectual developmental disorder
Health Risk
RS1051651433
Pathogenic
Intellectual developmental disorder, autosomal recessive 81, Intellectual developmental disorder
Health Risk
RS1414695401
Pathogenic
Intellectual developmental disorder, autosomal recessive 81, Intellectual developmental disorder
Health Risk
RS148742449
Pathogenic
Intellectual developmental disorder, autosomal recessive 81, Intellectual developmental disorder
Health Risk
RS2482381132
Pathogenic
Intellectual developmental disorder, autosomal recessive 81, Intellectual developmental disorder
Health Risk
RS2482794327
Pathogenic
Intellectual developmental disorder, autosomal recessive 81, Intellectual developmental disorder
Health Risk
RS372947820
Pathogenic
Intellectual developmental disorder, autosomal recessive 81, Intellectual developmental disorder
Health Risk
All Variants (14)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1332043274 | Health Risk | Conflicting classifications of pathogenicity | ASCC3-associated disorder, Intellectual developmental disorder, autosomal recessive 81 |
| RS938886650 | Health Risk | Conflicting classifications of pathogenicity | Congenital myopathy, Congenital myopathy |
| RS1432792609 | Health Risk | Likely pathogenic | See cases, Intellectual developmental disorder, autosomal recessive 81 |
| RS1781674062 | Health Risk | Likely pathogenic | Intellectual developmental disorder, autosomal recessive 81, Intellectual developmental disorder |
| RS2482809051 | Health Risk | Likely pathogenic | ASCC3-related disorder, ASCC3-related disorder |
| RS1045124261 | Health Risk | Pathogenic | Intellectual developmental disorder, autosomal recessive 81, Intellectual developmental disorder |
| RS1051651433 | Health Risk | Pathogenic | Intellectual developmental disorder, autosomal recessive 81, Intellectual developmental disorder |
| RS1414695401 | Health Risk | Pathogenic | Intellectual developmental disorder, autosomal recessive 81, Intellectual developmental disorder |
| RS148742449 | Health Risk | Pathogenic | Intellectual developmental disorder, autosomal recessive 81, Intellectual developmental disorder |
| RS2482381132 | Health Risk | Pathogenic | Intellectual developmental disorder, autosomal recessive 81, Intellectual developmental disorder |
| RS2482794327 | Health Risk | Pathogenic | Intellectual developmental disorder, autosomal recessive 81, Intellectual developmental disorder |
| RS372947820 | Health Risk | Pathogenic | Intellectual developmental disorder, autosomal recessive 81, Intellectual developmental disorder |
| RS746032367 | Health Risk | Pathogenic | Intellectual developmental disorder, autosomal recessive 81, Intellectual developmental disorder |
| RS749948570 | Health Risk | Pathogenic | Intellectual developmental disorder, autosomal recessive 81, Intellectual developmental disorder |