NM_003664.4(AP3B1):c.1474-7072_1650+921del

Variation ID: Help
6375
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Oct 11, 2012
Number of submission(s):
2
Condition(s):
Hermansky Pudlak syndrome 2[MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_003664.4(AP3B1):c.1474-7072_1650+921del

Allele ID:
21414
Variant type:
Deletion
Cytogenetic location:
5q14
Genomic location:
  • Chr5: 78140222 - 78148391 (on Assembly GRCh38)
  • Chr5: 77436046 - 77444215 (on Assembly GRCh37)
Other names:
  • EX15DEL
HGVS:
  • NG_007268.1:g.151314_159483del8170
  • NM_003664.4:c.1474-7072_1650+921del
  • NC_000005.10:g.78140222_78148391del8170 (GRCh38)
  • LRG_170t1:c.1474-7072_1650+921del
  • NC_000005.9:g.77436046_77444215del8170 (GRCh37)
  • NM_003664.3:c.1474-7072_1650+921del8168
  • LRG_170:g.151314_159483del8170
Note:
Deletion of exon 15 plus intronic flanking sequences from AP3B1 (NG_007268.1)
Links:
OMIM: 603401.0005

1 Affected gene

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Jul 1, 2006)
no assertion criteria providedliterature onlygermlineOMIMSCV000026939.2
Pathogenic
(Oct 11, 2012)
no assertion criteria providedliterature onlynot providedGeneReviewsSCV000041032.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Total for all submittersnot providednot providedgermline, not providednot providednot provided
GeneReviewsnot providednot providednot providednot providednot providednot provided
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Aug 10, 2017