HCCS Chromosome X
Holocytochrome c synthase
Upload your DNA to see your personal genotypes for variants in HCCS.
What This Gene Does
The protein encoded by this gene is an enzyme that covalently links a heme group to the apoprotein of cytochrome c. Defects in this gene are a cause of microphthalmia syndromic type 7 (MCOPS7). Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2010]
Gene Info
Gene Group
Mitochondrial respiratory chain complex assembly factors
Locus Type
gene with protein product
Location
Xp22.2
Ensembl
ENSG00000004961
Associated Conditions (4)
Intellectual disability
Inborn genetic diseases
HCCS-related disorder
Linear skin defects with multiple congenital anomalies 1
Key Variants
RS144641429
Conflicting classifications of pathogenicity
Intellectual disability, Inborn genetic diseases, HCCS-related disorder
Health Risk
RS1464547777
Conflicting classifications of pathogenicity
Health Risk
RS367601527
Conflicting classifications of pathogenicity
HCCS-related disorder, HCCS-related disorder
Health Risk
RS121917889
Likely pathogenic
Linear skin defects with multiple congenital anomalies 1, HCCS-related disorder, Linear skin defects with multiple congenital anomalies 1
Health Risk
RS2045455875
Likely pathogenic
Linear skin defects with multiple congenital anomalies 1, Linear skin defects with multiple congenital anomalies 1
Health Risk
RS2518472366
Likely pathogenic
Linear skin defects with multiple congenital anomalies 1, Linear skin defects with multiple congenital anomalies 1
Health Risk
RS121917888
Pathogenic
Linear skin defects with multiple congenital anomalies 1, Linear skin defects with multiple congenital anomalies 1
Health Risk
RS2147253978
Pathogenic
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144641429 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, Inborn genetic diseases, HCCS-related disorder |
| RS1464547777 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS367601527 | Health Risk | Conflicting classifications of pathogenicity | HCCS-related disorder, HCCS-related disorder |
| RS121917889 | Health Risk | Likely pathogenic | Linear skin defects with multiple congenital anomalies 1, HCCS-related disorder, Linear skin defects with multiple congenital anomalies 1 |
| RS2045455875 | Health Risk | Likely pathogenic | Linear skin defects with multiple congenital anomalies 1, Linear skin defects with multiple congenital anomalies 1 |
| RS2518472366 | Health Risk | Likely pathogenic | Linear skin defects with multiple congenital anomalies 1, Linear skin defects with multiple congenital anomalies 1 |
| RS121917888 | Health Risk | Pathogenic | Linear skin defects with multiple congenital anomalies 1, Linear skin defects with multiple congenital anomalies 1 |
| RS2147253978 | Health Risk | Pathogenic | — |