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Items: 2

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr19:45918128
GRCh38:
Chr19:45414870
ERCC1Cerebrooculofacioskeletal syndrome 4Pathogenic
(May 2, 2013)
no assertion criteria provided
2.
GRCh37:
Chr19:45922409
GRCh38:
Chr19:45419151
ERCC1Cerebrooculofacioskeletal syndrome 4Pathogenic
(Mar 1, 2007)
no assertion criteria provided