TBC1D7 Chromosome 6
TBC1 domain family member 7
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What This Gene Does
This gene encodes a member of the TBC-domain containing protein family. The encoded protein functions as a subunit of the tuberous sclerosis TSC1-TSC2 complex which plays a role in the regulation of cellular growth and differentiation. Mutations in this gene have been associated with autosomal recessive megalencephaly. Alternative splicing results in multiple transcript variants. Naturally occurring readthrough transcription occurs between this locus and downstream LOC100130357. [provided by RefSeq, Jan 2016]
Gene Info
Gene Group
TSC complex
Locus Type
gene with protein product
Location
6p24.1
Ensembl
ENSG00000145979
Associated Conditions (3)
Macrocephaly
Macrocephaly/megalencephaly syndrome
autosomal recessive
Key Variants
RS112668572
Conflicting classifications of pathogenicity
Health Risk
RS150455776
Conflicting classifications of pathogenicity
Health Risk
RS151071014
Conflicting classifications of pathogenicity
Health Risk
RS1554192525
Conflicting classifications of pathogenicity
Macrocephaly, Macrocephaly
Health Risk
RS549062038
Conflicting classifications of pathogenicity
Health Risk
RS1584522453
Likely pathogenic
Health Risk
RS2480565963
Likely pathogenic
Health Risk
RS1324026596
Pathogenic
Health Risk
RS483352922
Pathogenic
Macrocephaly/megalencephaly syndrome, autosomal recessive, Macrocephaly/megalencephaly syndrome
Health Risk
RS587777652
Pathogenic
Macrocephaly/megalencephaly syndrome, autosomal recessive, Macrocephaly/megalencephaly syndrome
Health Risk
RS758759342
Pathogenic
Macrocephaly/megalencephaly syndrome, autosomal recessive, Macrocephaly/megalencephaly syndrome
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS112668572 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS150455776 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS151071014 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1554192525 | Health Risk | Conflicting classifications of pathogenicity | Macrocephaly, Macrocephaly |
| RS549062038 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1584522453 | Health Risk | Likely pathogenic | — |
| RS2480565963 | Health Risk | Likely pathogenic | — |
| RS1324026596 | Health Risk | Pathogenic | — |
| RS483352922 | Health Risk | Pathogenic | Macrocephaly/megalencephaly syndrome, autosomal recessive, Macrocephaly/megalencephaly syndrome |
| RS587777652 | Health Risk | Pathogenic | Macrocephaly/megalencephaly syndrome, autosomal recessive, Macrocephaly/megalencephaly syndrome |
| RS758759342 | Health Risk | Pathogenic | Macrocephaly/megalencephaly syndrome, autosomal recessive, Macrocephaly/megalencephaly syndrome |