LOVD - Variant listings for ERCC2

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Patient data (#0001844)
Disease -
Reference Takayama et al., 1996 SwissVar VAR_003630
Template DNA
Technique PCR
Remarks -
# Reported 1
Ethnic origin -
Disease Mesh ID -
Geographic origin -

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon -
DNA change NM_000400.3:c.2164C>T   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein -
Re-site -
Frequency -
DB-ID ERCC2_00007

1 entry in ERCC2

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
Re-site Descending
Ascending
Frequency Descending
Ascending
DB-ID Descending
Ascending
+/+ Unknown - NM_000400.3:c.2164C>T - - - - ERCC2_00007