LOVD - Variant listings for P4HB

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Patient data (#0003458)
Patient ID
Disease Cole-Carpenter Syndrome
Reference Balasubramanian et al., 2017
Template DNA
Technique PCR, SEQ, WES
Remarks -
Ethnic origin -

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 09
DNA change c.1178A>G   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Substitution
Mutation effect Missense
Protein p.(Tyr393Cys)
RNA change -
Re-site -
DB-ID P4HB_00001

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 09 c.1178A>G - Substitution Missense p.(Tyr393Cys) - - P4HB_00001