LOVD - Variant listings for P4HB

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Patient data (#0003598)
Patient ID
Disease Cole-Carpenter Syndrome
Reference Ouyang and Yang, 2017
Template DNA
Technique WES
Remarks -
Ethnic origin Chinese

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 4i-8i
DNA change c.(?_625)_(1177_?)del
dbSNP -
Type Deletion
Mutation effect Multi-exon deletion
Protein -
RNA change -
Re-site -
DB-ID P4HB_00002

1 entry in P4HB

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
dbSNP Descending
Ascending
Type Descending
Ascending
Mutation effect Descending
Ascending
Protein Descending
Ascending
RNA change Descending
Ascending
Re-site Descending
Ascending
DB-ID Descending
Ascending
+/+ Unknown 4i-8i c.(?_625)_(1177_?)del - Deletion Multi-exon deletion - - - P4HB_00002