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NM_024747.6(HPS6):c.1999C>T (p.Arg667Ter)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Feb 5, 2021)
Last evaluated:
Nov 13, 2020
Accession:
VCV000996365.1
Variation ID:
996365
Description:
single nucleotide variant
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NM_024747.6(HPS6):c.1999C>T (p.Arg667Ter)

Allele ID
984078
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q24.32
Genomic location
10: 102067473 (GRCh38) GRCh38 UCSC
10: 103827230 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_564:g.7084C>T
NC_000010.10:g.103827230C>T
NC_000010.11:g.102067473C>T
... more HGVS
Protein change
R667*
Other names
-
Canonical SPDI
NC_000010.11:102067472:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 no assertion criteria provided Nov 13, 2020 RCV001290772.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
HPS6 - - GRCh38
GRCh37
109 124

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Nov 13, 2020)
no assertion criteria provided
Method: clinical testing
Hermansky-Pudlak syndrome 6
Allele origin: germline
Genetics and Prenatal Diagnosis Center,The First Affiliated Hospital of Zhengzhou University
Accession: SCV001478883.1
Submitted: (Feb 05, 2021)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Oct 08, 2021