KHDC3L Chromosome 6
KH domain containing 3 like, subcortical maternal complex member
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What This Gene Does
The protein encoded by this gene belongs to the KHDC1 family, members of which contain an atypical KH domain that may not bind RNA like canonical KH domains. This gene is specifically expressed in the oocytes, and recent studies suggest that it may function as a regulator of genomic imprinting in the oocyte. Mutations in this gene are associated with recurrent biparental complete hydatidiform mole. [provided by RefSeq, Dec 2011]
Gene Info
Gene Group
Subcortical maternal complex
Locus Type
gene with protein product
Location
6q13
Ensembl
ENSG00000203908
Associated Conditions (5)
Inborn genetic diseases
Hydatidiform mole
recurrent
2
KHDC3L-related condition
Key Variants
RS146663357
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS745776920
Likely pathogenic
Hydatidiform mole, recurrent, 2
Health Risk
RS606231233
Pathogenic
Hydatidiform mole, recurrent, 2
Health Risk
RS606231234
Pathogenic
Hydatidiform mole, recurrent, 2
Health Risk
RS606231286
Pathogenic
Hydatidiform mole, recurrent, 2
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS146663357 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS745776920 | Health Risk | Likely pathogenic | Hydatidiform mole, recurrent, 2 |
| RS606231233 | Health Risk | Pathogenic | Hydatidiform mole, recurrent, 2 |
| RS606231234 | Health Risk | Pathogenic | Hydatidiform mole, recurrent, 2 |
| RS606231286 | Health Risk | Pathogenic | Hydatidiform mole, recurrent, 2 |